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Items: 1 to 20 of 4152

1.

rs1491538413 has merged into rs9280395 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    6:33300978 (GRCh38)
    6:33268755 (GRCh37)
    Canonical SPDI:
    NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33300965:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    RGL2 (Varview), TAPBP (Varview)
    Functional Consequence:
    5_prime_UTR_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    -=0.3177/176 (NorthernSweden)
    -=0.3359/1682 (1000Genomes)
    HGVS:
    NC_000006.12:g.33300978_33300983del, NC_000006.12:g.33300979_33300983del, NC_000006.12:g.33300980_33300983del, NC_000006.12:g.33300981_33300983del, NC_000006.12:g.33300982_33300983del, NC_000006.12:g.33300983del, NC_000006.12:g.33300983dup, NC_000006.12:g.33300982_33300983dup, NC_000006.12:g.33300981_33300983dup, NC_000006.12:g.33300980_33300983dup, NC_000006.12:g.33300977_33300983dup, NC_000006.11:g.33268755_33268760del, NC_000006.11:g.33268756_33268760del, NC_000006.11:g.33268757_33268760del, NC_000006.11:g.33268758_33268760del, NC_000006.11:g.33268759_33268760del, NC_000006.11:g.33268760del, NC_000006.11:g.33268760dup, NC_000006.11:g.33268759_33268760dup, NC_000006.11:g.33268758_33268760dup, NC_000006.11:g.33268757_33268760dup, NC_000006.11:g.33268754_33268760dup, NG_009876.1:g.18242_18247del, NG_009876.1:g.18243_18247del, NG_009876.1:g.18244_18247del, NG_009876.1:g.18245_18247del, NG_009876.1:g.18246_18247del, NG_009876.1:g.18247del, NG_009876.1:g.18247dup, NG_009876.1:g.18246_18247dup, NG_009876.1:g.18245_18247dup, NG_009876.1:g.18244_18247dup, NG_009876.1:g.18241_18247dup, NM_003190.5:c.*789_*794del, NM_003190.5:c.*790_*794del, NM_003190.5:c.*791_*794del, NM_003190.5:c.*792_*794del, NM_003190.5:c.*793_*794del, NM_003190.5:c.*794del, NM_003190.5:c.*794dup, NM_003190.5:c.*793_*794dup, NM_003190.5:c.*792_*794dup, NM_003190.5:c.*791_*794dup, NM_003190.5:c.*788_*794dup, NM_003190.4:c.*789_*794del, NM_003190.4:c.*790_*794del, NM_003190.4:c.*791_*794del, NM_003190.4:c.*792_*794del, NM_003190.4:c.*793_*794del, NM_003190.4:c.*794del, NM_003190.4:c.*794dup, NM_003190.4:c.*793_*794dup, NM_003190.4:c.*792_*794dup, NM_003190.4:c.*791_*794dup, NM_003190.4:c.*788_*794dup, NM_172209.3:c.*789_*794del, NM_172209.3:c.*790_*794del, NM_172209.3:c.*791_*794del, NM_172209.3:c.*792_*794del, NM_172209.3:c.*793_*794del, NM_172209.3:c.*794del, NM_172209.3:c.*794dup, NM_172209.3:c.*793_*794dup, NM_172209.3:c.*792_*794dup, NM_172209.3:c.*791_*794dup, NM_172209.3:c.*788_*794dup, NM_172209.2:c.*789_*794del, NM_172209.2:c.*790_*794del, NM_172209.2:c.*791_*794del, NM_172209.2:c.*792_*794del, NM_172209.2:c.*793_*794del, NM_172209.2:c.*794del, NM_172209.2:c.*794dup, NM_172209.2:c.*793_*794dup, NM_172209.2:c.*792_*794dup, NM_172209.2:c.*791_*794dup, NM_172209.2:c.*788_*794dup, NM_001410875.1:c.*721_*726del, NM_001410875.1:c.*722_*726del, NM_001410875.1:c.*723_*726del, NM_001410875.1:c.*724_*726del, NM_001410875.1:c.*725_*726del, NM_001410875.1:c.*726del, NM_001410875.1:c.*726dup, NM_001410875.1:c.*725_*726dup, NM_001410875.1:c.*724_*726dup, NM_001410875.1:c.*723_*726dup, NM_001410875.1:c.*720_*726dup, NT_113891.3:g.4712475dup, NT_113891.3:g.4712471_4712475del, NT_113891.3:g.4712472_4712475del, NT_113891.3:g.4712473_4712475del, NT_113891.3:g.4712474_4712475del, NT_113891.3:g.4712475del, NT_113891.3:g.4712474_4712475dup, NT_113891.3:g.4712473_4712475dup, NT_113891.3:g.4712472_4712475dup, NT_113891.3:g.4712471_4712475dup, NT_113891.3:g.4712468_4712475dup, NT_167247.2:g.4736914_4736919del, NT_167247.2:g.4736915_4736919del, NT_167247.2:g.4736916_4736919del, NT_167247.2:g.4736917_4736919del, NT_167247.2:g.4736918_4736919del, NT_167247.2:g.4736919del, NT_167247.2:g.4736919dup, NT_167247.2:g.4736918_4736919dup, NT_167247.2:g.4736917_4736919dup, NT_167247.2:g.4736916_4736919dup, NT_167247.2:g.4736913_4736919dup, NT_167247.1:g.4742499_4742504del, NT_167247.1:g.4742500_4742504del, NT_167247.1:g.4742501_4742504del, NT_167247.1:g.4742502_4742504del, NT_167247.1:g.4742503_4742504del, NT_167247.1:g.4742504del, NT_167247.1:g.4742504dup, NT_167247.1:g.4742503_4742504dup, NT_167247.1:g.4742502_4742504dup, NT_167247.1:g.4742501_4742504dup, NT_167247.1:g.4742498_4742504dup, NT_167248.2:g.4495407_4495412del, NT_167248.2:g.4495408_4495412del, NT_167248.2:g.4495409_4495412del, NT_167248.2:g.4495410_4495412del, NT_167248.2:g.4495411_4495412del, NT_167248.2:g.4495412del, NT_167248.2:g.4495412dup, NT_167248.2:g.4495411_4495412dup, NT_167248.2:g.4495410_4495412dup, NT_167248.2:g.4495409_4495412dup, NT_167248.2:g.4495406_4495412dup, NT_167248.1:g.4501003_4501008del, NT_167248.1:g.4501004_4501008del, NT_167248.1:g.4501005_4501008del, NT_167248.1:g.4501006_4501008del, NT_167248.1:g.4501007_4501008del, NT_167248.1:g.4501008del, NT_167248.1:g.4501008dup, NT_167248.1:g.4501007_4501008dup, NT_167248.1:g.4501006_4501008dup, NT_167248.1:g.4501005_4501008dup, NT_167248.1:g.4501002_4501008dup, NT_167245.2:g.4544508dup, NT_167245.2:g.4544504_4544508del, NT_167245.2:g.4544505_4544508del, NT_167245.2:g.4544506_4544508del, NT_167245.2:g.4544507_4544508del, NT_167245.2:g.4544508del, NT_167245.2:g.4544507_4544508dup, NT_167245.2:g.4544506_4544508dup, NT_167245.2:g.4544505_4544508dup, NT_167245.2:g.4544504_4544508dup, NT_167245.2:g.4544501_4544508dup, XM_011514828.4:c.*721_*726del, XM_011514828.4:c.*722_*726del, XM_011514828.4:c.*723_*726del, XM_011514828.4:c.*724_*726del, XM_011514828.4:c.*725_*726del, XM_011514828.4:c.*726del, XM_011514828.4:c.*726dup, XM_011514828.4:c.*725_*726dup, XM_011514828.4:c.*724_*726dup, XM_011514828.4:c.*723_*726dup, XM_011514828.4:c.*720_*726dup, XM_011514828.2:c.*721_*726del, XM_011514828.2:c.*722_*726del, XM_011514828.2:c.*723_*726del, XM_011514828.2:c.*724_*726del, XM_011514828.2:c.*725_*726del, XM_011514828.2:c.*726del, XM_011514828.2:c.*726dup, XM_011514828.2:c.*725_*726dup, XM_011514828.2:c.*724_*726dup, XM_011514828.2:c.*723_*726dup, XM_011514828.2:c.*720_*726dup, XM_011514828.1:c.*721_*726del, XM_011514828.1:c.*722_*726del, XM_011514828.1:c.*723_*726del, XM_011514828.1:c.*724_*726del, XM_011514828.1:c.*725_*726del, XM_011514828.1:c.*726del, XM_011514828.1:c.*726dup, XM_011514828.1:c.*725_*726dup, XM_011514828.1:c.*724_*726dup, XM_011514828.1:c.*723_*726dup, XM_011514828.1:c.*720_*726dup, XM_047419202.1:c.-1514_-1509del, XM_047419202.1:c.-1513_-1509del, XM_047419202.1:c.-1512_-1509del, XM_047419202.1:c.-1511_-1509del, XM_047419202.1:c.-1510_-1509del, XM_047419202.1:c.-1509del, XM_047419202.1:c.-1509dup, XM_047419202.1:c.-1510_-1509dup, XM_047419202.1:c.-1511_-1509dup, XM_047419202.1:c.-1512_-1509dup, XM_047419202.1:c.-1515_-1509dup, XM_017011227.2:c.*721_*726del, XM_017011227.2:c.*722_*726del, XM_017011227.2:c.*723_*726del, XM_017011227.2:c.*724_*726del, XM_017011227.2:c.*725_*726del, XM_017011227.2:c.*726del, XM_017011227.2:c.*726dup, XM_017011227.2:c.*725_*726dup, XM_017011227.2:c.*724_*726dup, XM_017011227.2:c.*723_*726dup, XM_017011227.2:c.*720_*726dup, XM_047419272.1:c.*721_*726del, XM_047419272.1:c.*722_*726del, XM_047419272.1:c.*723_*726del, XM_047419272.1:c.*724_*726del, XM_047419272.1:c.*725_*726del, XM_047419272.1:c.*726del, XM_047419272.1:c.*726dup, XM_047419272.1:c.*725_*726dup, XM_047419272.1:c.*724_*726dup, XM_047419272.1:c.*723_*726dup, XM_047419272.1:c.*720_*726dup, XM_047419271.1:c.*721_*726del, XM_047419271.1:c.*722_*726del, XM_047419271.1:c.*723_*726del, XM_047419271.1:c.*724_*726del, XM_047419271.1:c.*725_*726del, XM_047419271.1:c.*726del, XM_047419271.1:c.*726dup, XM_047419271.1:c.*725_*726dup, XM_047419271.1:c.*724_*726dup, XM_047419271.1:c.*723_*726dup, XM_047419271.1:c.*720_*726dup, NT_113891.2:g.4712581dup, NT_113891.2:g.4712577_4712581del, NT_113891.2:g.4712578_4712581del, NT_113891.2:g.4712579_4712581del, NT_113891.2:g.4712580_4712581del, NT_113891.2:g.4712581del, NT_113891.2:g.4712580_4712581dup, NT_113891.2:g.4712579_4712581dup, NT_113891.2:g.4712578_4712581dup, NT_113891.2:g.4712577_4712581dup, NT_113891.2:g.4712574_4712581dup, NT_167245.1:g.4550093dup, NT_167245.1:g.4550089_4550093del, NT_167245.1:g.4550090_4550093del, NT_167245.1:g.4550091_4550093del, NT_167245.1:g.4550092_4550093del, NT_167245.1:g.4550093del, NT_167245.1:g.4550092_4550093dup, NT_167245.1:g.4550091_4550093dup, NT_167245.1:g.4550090_4550093dup, NT_167245.1:g.4550089_4550093dup, NT_167245.1:g.4550086_4550093dup

    2.

    rs1491447233 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      6:33300965 (GRCh38)
      6:33268742 (GRCh37)
      Canonical SPDI:
      NC_000006.12:33300964:CA:
      Gene:
      RGL2 (Varview), TAPBP (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,5_prime_UTR_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000011/1 (GnomAD)
      HGVS:
      NC_000006.12:g.33300965_33300966del, NC_000006.11:g.33268742_33268743del, NG_009876.1:g.18247_18248del, NM_003190.5:c.*794_*795del, NM_003190.4:c.*794_*795del, NM_172209.3:c.*794_*795del, NM_172209.2:c.*794_*795del, NM_001410875.1:c.*726_*727del, NT_113891.3:g.4712475dup, NT_113891.3:g.4712458del, NT_167247.2:g.4736901_4736902del, NT_167247.1:g.4742486_4742487del, NT_167248.2:g.4495394_4495395del, NT_167248.1:g.4500990_4500991del, NT_167245.2:g.4544508dup, NT_167245.2:g.4544491del, XM_011514828.4:c.*726_*727del, XM_011514828.2:c.*726_*727del, XM_011514828.1:c.*726_*727del, XM_017011227.2:c.*726_*727del, XM_047419202.1:c.-1509_-1508del, XM_047419271.1:c.*726_*727del, XM_047419272.1:c.*726_*727del, NT_113891.2:g.4712581dup, NT_113891.2:g.4712564del, NT_167245.1:g.4550093dup, NT_167245.1:g.4550076del

      3.

      rs1491351878 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        6:33308169 (GRCh38)
        6:33275947 (GRCh37)
        Canonical SPDI:
        NC_000006.12:33308169::C
        Gene:
        TAPBP (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000021/1 (GnomAD)
        HGVS:

        4.

        rs1491313218 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          6:33309597 (GRCh38)
          6:33277375 (GRCh37)
          Canonical SPDI:
          NC_000006.12:33309597:T:TT,NC_000006.12:33309597:T:TTT,NC_000006.12:33309597:T:TTTT,NC_000006.12:33309597:T:TTTTT,NC_000006.12:33309597:T:TTTTTTTT,NC_000006.12:33309597:T:TTTTTTTTT,NC_000006.12:33309597:T:TTTTTTTTTTTTTTT,NC_000006.12:33309597:T:TTTTTTTTTTTTTTTTT
          Gene:
          TAPBP (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTT=0.00006/1 (ALFA)
          HGVS:
          NC_000006.12:g.33309598dup, NC_000006.12:g.33309598_33309599insTT, NC_000006.12:g.33309598_33309599insTTT, NC_000006.12:g.33309598_33309599insTTTT, NC_000006.12:g.33309598_33309599insTTTTTTT, NC_000006.12:g.33309598_33309599insTTTTTTTT, NC_000006.12:g.33309598_33309599insTTTTTTTTTTTTTT, NC_000006.12:g.33309598_33309599insTTTTTTTTTTTTTTTT, NC_000006.11:g.33277375dup, NC_000006.11:g.33277375_33277376insTT, NC_000006.11:g.33277375_33277376insTTT, NC_000006.11:g.33277375_33277376insTTTT, NC_000006.11:g.33277375_33277376insTTTTTTT, NC_000006.11:g.33277375_33277376insTTTTTTTT, NC_000006.11:g.33277375_33277376insTTTTTTTTTTTTTT, NC_000006.11:g.33277375_33277376insTTTTTTTTTTTTTTTT, NG_009876.1:g.9615dup, NG_009876.1:g.9615_9616insAA, NG_009876.1:g.9615_9616insAAA, NG_009876.1:g.9615_9616insAAAA, NG_009876.1:g.9615_9616insAAAAAAA, NG_009876.1:g.9615_9616insAAAAAAAA, NG_009876.1:g.9615_9616insAAAAAAAAAAAAAA, NG_009876.1:g.9615_9616insAAAAAAAAAAAAAAAA, NT_113891.3:g.4721081dup, NT_113891.3:g.4721081_4721082insTT, NT_113891.3:g.4721081_4721082insTTT, NT_113891.3:g.4721081_4721082insTTTT, NT_113891.3:g.4721081_4721082insTTTTTTT, NT_113891.3:g.4721081_4721082insTTTTTTTT, NT_113891.3:g.4721081_4721082insTTTTTTTTTTTTTT, NT_113891.3:g.4721081_4721082insTTTTTTTTTTTTTTTT, NT_113891.2:g.4721187dup, NT_113891.2:g.4721187_4721188insTT, NT_113891.2:g.4721187_4721188insTTT, NT_113891.2:g.4721187_4721188insTTTT, NT_113891.2:g.4721187_4721188insTTTTTTT, NT_113891.2:g.4721187_4721188insTTTTTTTT, NT_113891.2:g.4721187_4721188insTTTTTTTTTTTTTT, NT_113891.2:g.4721187_4721188insTTTTTTTTTTTTTTTT, NT_167247.2:g.4745534dup, NT_167247.2:g.4745534_4745535insTT, NT_167247.2:g.4745534_4745535insTTT, NT_167247.2:g.4745534_4745535insTTTT, NT_167247.2:g.4745534_4745535insTTTTTTT, NT_167247.2:g.4745534_4745535insTTTTTTTT, NT_167247.2:g.4745534_4745535insTTTTTTTTTTTTTT, NT_167247.2:g.4745534_4745535insTTTTTTTTTTTTTTTT, NT_167247.1:g.4751119dup, NT_167247.1:g.4751119_4751120insTT, NT_167247.1:g.4751119_4751120insTTT, NT_167247.1:g.4751119_4751120insTTTT, NT_167247.1:g.4751119_4751120insTTTTTTT, NT_167247.1:g.4751119_4751120insTTTTTTTT, NT_167247.1:g.4751119_4751120insTTTTTTTTTTTTTT, NT_167247.1:g.4751119_4751120insTTTTTTTTTTTTTTTT, NT_167248.2:g.4504026dup, NT_167248.2:g.4504026_4504027insTT, NT_167248.2:g.4504026_4504027insTTT, NT_167248.2:g.4504026_4504027insTTTT, NT_167248.2:g.4504026_4504027insTTTTTTT, NT_167248.2:g.4504026_4504027insTTTTTTTT, NT_167248.2:g.4504026_4504027insTTTTTTTTTTTTTT, NT_167248.2:g.4504026_4504027insTTTTTTTTTTTTTTTT, NT_167248.1:g.4509622dup, NT_167248.1:g.4509622_4509623insTT, NT_167248.1:g.4509622_4509623insTTT, NT_167248.1:g.4509622_4509623insTTTT, NT_167248.1:g.4509622_4509623insTTTTTTT, NT_167248.1:g.4509622_4509623insTTTTTTTT, NT_167248.1:g.4509622_4509623insTTTTTTTTTTTTTT, NT_167248.1:g.4509622_4509623insTTTTTTTTTTTTTTTT, NT_167245.2:g.4553114dup, NT_167245.2:g.4553114_4553115insTT, NT_167245.2:g.4553114_4553115insTTT, NT_167245.2:g.4553114_4553115insTTTT, NT_167245.2:g.4553114_4553115insTTTTTTT, NT_167245.2:g.4553114_4553115insTTTTTTTT, NT_167245.2:g.4553114_4553115insTTTTTTTTTTTTTT, NT_167245.2:g.4553114_4553115insTTTTTTTTTTTTTTTT, NT_167245.1:g.4558699dup, NT_167245.1:g.4558699_4558700insTT, NT_167245.1:g.4558699_4558700insTTT, NT_167245.1:g.4558699_4558700insTTTT, NT_167245.1:g.4558699_4558700insTTTTTTT, NT_167245.1:g.4558699_4558700insTTTTTTTT, NT_167245.1:g.4558699_4558700insTTTTTTTTTTTTTT, NT_167245.1:g.4558699_4558700insTTTTTTTTTTTTTTTT

          5.

          rs1491118286 has merged into rs9280399 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            6:33308179 (GRCh38)
            6:33275956 (GRCh37)
            Canonical SPDI:
            NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33308168:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            TAPBP (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000006.12:g.33308179_33308188del, NC_000006.12:g.33308181_33308188del, NC_000006.12:g.33308182_33308188del, NC_000006.12:g.33308183_33308188del, NC_000006.12:g.33308184_33308188del, NC_000006.12:g.33308186_33308188del, NC_000006.12:g.33308187_33308188del, NC_000006.12:g.33308188del, NC_000006.12:g.33308188dup, NC_000006.12:g.33308187_33308188dup, NC_000006.12:g.33308186_33308188dup, NC_000006.12:g.33308184_33308188dup, NC_000006.12:g.33308183_33308188dup, NC_000006.12:g.33308182_33308188dup, NC_000006.12:g.33308180_33308188dup, NC_000006.12:g.33308179_33308188dup, NC_000006.12:g.33308178_33308188dup, NC_000006.12:g.33308177_33308188dup, NC_000006.11:g.33275956_33275965del, NC_000006.11:g.33275958_33275965del, NC_000006.11:g.33275959_33275965del, NC_000006.11:g.33275960_33275965del, NC_000006.11:g.33275961_33275965del, NC_000006.11:g.33275963_33275965del, NC_000006.11:g.33275964_33275965del, NC_000006.11:g.33275965del, NC_000006.11:g.33275965dup, NC_000006.11:g.33275964_33275965dup, NC_000006.11:g.33275963_33275965dup, NC_000006.11:g.33275961_33275965dup, NC_000006.11:g.33275960_33275965dup, NC_000006.11:g.33275959_33275965dup, NC_000006.11:g.33275957_33275965dup, NC_000006.11:g.33275956_33275965dup, NC_000006.11:g.33275955_33275965dup, NC_000006.11:g.33275954_33275965dup, NG_009876.1:g.11035_11044del, NG_009876.1:g.11037_11044del, NG_009876.1:g.11038_11044del, NG_009876.1:g.11039_11044del, NG_009876.1:g.11040_11044del, NG_009876.1:g.11042_11044del, NG_009876.1:g.11043_11044del, NG_009876.1:g.11044del, NG_009876.1:g.11044dup, NG_009876.1:g.11043_11044dup, NG_009876.1:g.11042_11044dup, NG_009876.1:g.11040_11044dup, NG_009876.1:g.11039_11044dup, NG_009876.1:g.11038_11044dup, NG_009876.1:g.11036_11044dup, NG_009876.1:g.11035_11044dup, NG_009876.1:g.11034_11044dup, NG_009876.1:g.11033_11044dup, NT_113891.3:g.4719665_4719671dup, NT_113891.3:g.4719669_4719671del, NT_113891.3:g.4719671del, NT_113891.3:g.4719671dup, NT_113891.3:g.4719670_4719671dup, NT_113891.3:g.4719668_4719671dup, NT_113891.3:g.4719667_4719671dup, NT_113891.3:g.4719666_4719671dup, NT_113891.3:g.4719664_4719671dup, NT_113891.3:g.4719663_4719671dup, NT_113891.3:g.4719662_4719671dup, NT_113891.3:g.4719660_4719671dup, NT_113891.3:g.4719659_4719671dup, NT_113891.3:g.4719671_4719672insAAAAAAAAAAAAAA, NT_113891.3:g.4719671_4719672insAAAAAAAAAAAAAAAA, NT_113891.3:g.4719671_4719672insAAAAAAAAAAAAAAAAA, NT_113891.3:g.4719671_4719672insAAAAAAAAAAAAAAAAAA, NT_113891.3:g.4719671_4719672insAAAAAAAAAAAAAAAAAAA, NT_167247.2:g.4744116_4744125del, NT_167247.2:g.4744118_4744125del, NT_167247.2:g.4744119_4744125del, NT_167247.2:g.4744120_4744125del, NT_167247.2:g.4744121_4744125del, NT_167247.2:g.4744123_4744125del, NT_167247.2:g.4744124_4744125del, NT_167247.2:g.4744125del, NT_167247.2:g.4744125dup, NT_167247.2:g.4744124_4744125dup, NT_167247.2:g.4744123_4744125dup, NT_167247.2:g.4744121_4744125dup, NT_167247.2:g.4744120_4744125dup, NT_167247.2:g.4744119_4744125dup, NT_167247.2:g.4744117_4744125dup, NT_167247.2:g.4744116_4744125dup, NT_167247.2:g.4744115_4744125dup, NT_167247.2:g.4744114_4744125dup, NT_167247.1:g.4749701_4749710del, NT_167247.1:g.4749703_4749710del, NT_167247.1:g.4749704_4749710del, NT_167247.1:g.4749705_4749710del, NT_167247.1:g.4749706_4749710del, NT_167247.1:g.4749708_4749710del, NT_167247.1:g.4749709_4749710del, NT_167247.1:g.4749710del, NT_167247.1:g.4749710dup, NT_167247.1:g.4749709_4749710dup, NT_167247.1:g.4749708_4749710dup, NT_167247.1:g.4749706_4749710dup, NT_167247.1:g.4749705_4749710dup, NT_167247.1:g.4749704_4749710dup, NT_167247.1:g.4749702_4749710dup, NT_167247.1:g.4749701_4749710dup, NT_167247.1:g.4749700_4749710dup, NT_167247.1:g.4749699_4749710dup, NT_167248.2:g.4502607_4502616del, NT_167248.2:g.4502609_4502616del, NT_167248.2:g.4502610_4502616del, NT_167248.2:g.4502611_4502616del, NT_167248.2:g.4502612_4502616del, NT_167248.2:g.4502614_4502616del, NT_167248.2:g.4502615_4502616del, NT_167248.2:g.4502616del, NT_167248.2:g.4502616dup, NT_167248.2:g.4502615_4502616dup, NT_167248.2:g.4502614_4502616dup, NT_167248.2:g.4502612_4502616dup, NT_167248.2:g.4502611_4502616dup, NT_167248.2:g.4502610_4502616dup, NT_167248.2:g.4502608_4502616dup, NT_167248.2:g.4502607_4502616dup, NT_167248.2:g.4502606_4502616dup, NT_167248.2:g.4502605_4502616dup, NT_167248.1:g.4508203_4508212del, NT_167248.1:g.4508205_4508212del, NT_167248.1:g.4508206_4508212del, NT_167248.1:g.4508207_4508212del, NT_167248.1:g.4508208_4508212del, NT_167248.1:g.4508210_4508212del, NT_167248.1:g.4508211_4508212del, NT_167248.1:g.4508212del, NT_167248.1:g.4508212dup, NT_167248.1:g.4508211_4508212dup, NT_167248.1:g.4508210_4508212dup, NT_167248.1:g.4508208_4508212dup, NT_167248.1:g.4508207_4508212dup, NT_167248.1:g.4508206_4508212dup, NT_167248.1:g.4508204_4508212dup, NT_167248.1:g.4508203_4508212dup, NT_167248.1:g.4508202_4508212dup, NT_167248.1:g.4508201_4508212dup, NT_167245.2:g.4551698_4551704dup, NT_167245.2:g.4551702_4551704del, NT_167245.2:g.4551704del, NT_167245.2:g.4551704dup, NT_167245.2:g.4551703_4551704dup, NT_167245.2:g.4551701_4551704dup, NT_167245.2:g.4551700_4551704dup, NT_167245.2:g.4551699_4551704dup, NT_167245.2:g.4551697_4551704dup, NT_167245.2:g.4551696_4551704dup, NT_167245.2:g.4551695_4551704dup, NT_167245.2:g.4551693_4551704dup, NT_167245.2:g.4551692_4551704dup, NT_167245.2:g.4551704_4551705insAAAAAAAAAAAAAA, NT_167245.2:g.4551704_4551705insAAAAAAAAAAAAAAAA, NT_167245.2:g.4551704_4551705insAAAAAAAAAAAAAAAAA, NT_167245.2:g.4551704_4551705insAAAAAAAAAAAAAAAAAA, NT_167245.2:g.4551704_4551705insAAAAAAAAAAAAAAAAAAA, NT_113891.2:g.4719771_4719777dup, NT_113891.2:g.4719775_4719777del, NT_113891.2:g.4719777del, NT_113891.2:g.4719777dup, NT_113891.2:g.4719776_4719777dup, NT_113891.2:g.4719774_4719777dup, NT_113891.2:g.4719773_4719777dup, NT_113891.2:g.4719772_4719777dup, NT_113891.2:g.4719770_4719777dup, NT_113891.2:g.4719769_4719777dup, NT_113891.2:g.4719768_4719777dup, NT_113891.2:g.4719766_4719777dup, NT_113891.2:g.4719765_4719777dup, NT_113891.2:g.4719777_4719778insAAAAAAAAAAAAAA, NT_113891.2:g.4719777_4719778insAAAAAAAAAAAAAAAA, NT_113891.2:g.4719777_4719778insAAAAAAAAAAAAAAAAA, NT_113891.2:g.4719777_4719778insAAAAAAAAAAAAAAAAAA, NT_113891.2:g.4719777_4719778insAAAAAAAAAAAAAAAAAAA, NT_167245.1:g.4557283_4557289dup, NT_167245.1:g.4557287_4557289del, NT_167245.1:g.4557289del, NT_167245.1:g.4557289dup, NT_167245.1:g.4557288_4557289dup, NT_167245.1:g.4557286_4557289dup, NT_167245.1:g.4557285_4557289dup, NT_167245.1:g.4557284_4557289dup, NT_167245.1:g.4557282_4557289dup, NT_167245.1:g.4557281_4557289dup, NT_167245.1:g.4557280_4557289dup, NT_167245.1:g.4557278_4557289dup, NT_167245.1:g.4557277_4557289dup, NT_167245.1:g.4557289_4557290insAAAAAAAAAAAAAA, NT_167245.1:g.4557289_4557290insAAAAAAAAAAAAAAAA, NT_167245.1:g.4557289_4557290insAAAAAAAAAAAAAAAAA, NT_167245.1:g.4557289_4557290insAAAAAAAAAAAAAAAAAA, NT_167245.1:g.4557289_4557290insAAAAAAAAAAAAAAAAAAA

            6.

            rs1490625613 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:33311084 (GRCh38)
              6:33278861 (GRCh37)
              Canonical SPDI:
              NC_000006.12:33311083:A:G
              Gene:
              TAPBP (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              G=0.000014/2 (GnomAD)
              HGVS:

              7.

              rs1490609881 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:33312358 (GRCh38)
                6:33280135 (GRCh37)
                Canonical SPDI:
                NC_000006.12:33312357:G:A
                Gene:
                TAPBP (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1490548390 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:33304445 (GRCh38)
                  6:33272222 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:33304444:G:A
                  Gene:
                  TAPBP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1490297493 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:33312146 (GRCh38)
                    6:33279923 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:33312145:G:A
                    Gene:
                    TAPBP (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:

                    10.

                    rs1490281930 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:33313216 (GRCh38)
                      6:33280993 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:33313215:C:T
                      Gene:
                      TAPBP (Varview)
                      Functional Consequence:
                      splice_donor_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000011/3 (TOPMED)
                      HGVS:

                      11.

                      rs1489788410 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        6:33312616 (GRCh38)
                        6:33280393 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:33312615:G:C
                        Gene:
                        TAPBP (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1489768829 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:33305067 (GRCh38)
                          6:33272844 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:33305066:A:G
                          Gene:
                          TAPBP (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000006.12:g.33305067A>G, NC_000006.11:g.33272844A>G, NG_009876.1:g.14146T>C, NM_003190.5:c.790T>C, NM_003190.4:c.790T>C, NM_172209.3:c.529T>C, NM_172209.2:c.529T>C, NM_172208.3:c.790T>C, NM_172208.2:c.790T>C, NM_001410875.1:c.790T>C, NT_113891.3:g.4716561A>G, NT_113891.2:g.4716667A>G, NT_167247.2:g.4741003A>G, NT_167247.1:g.4746588A>G, NT_167248.2:g.4499498A>G, NT_167248.1:g.4505094A>G, NT_167245.2:g.4548594A>G, NT_167245.1:g.4554179A>G, XM_011514828.4:c.790T>C, XM_011514828.3:c.790T>C, XM_011514828.2:c.790T>C, XM_011514828.1:c.790T>C, XM_017011227.2:c.790T>C, XM_047419272.1:c.529T>C, XM_047419271.1:c.529T>C, NP_003181.3:p.Phe264Leu, NP_757346.2:p.Phe177Leu, NP_757345.2:p.Phe264Leu, XP_011513130.1:p.Phe264Leu, XP_016866716.1:p.Phe264Leu, XP_047275228.1:p.Phe177Leu, XP_047275227.1:p.Phe177Leu

                          13.

                          rs1489668455 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:33304965 (GRCh38)
                            6:33272742 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:33304964:G:A
                            Gene:
                            TAPBP (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1489489352 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              6:33310164 (GRCh38)
                              6:33277941 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:33310163:T:C
                              Gene:
                              TAPBP (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1489336363 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                AA>- [Show Flanks]
                                Chromosome:
                                6:33301518 (GRCh38)
                                6:33269295 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:33301517:AA:
                                Gene:
                                RGL2 (Varview), TAPBP (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000031/4 (GnomAD)
                                HGVS:

                                16.

                                rs1489151927 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  6:33314318 (GRCh38)
                                  6:33282095 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:33314317:T:A
                                  Gene:
                                  TAPBP (Varview), ZBTB22 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000022/3 (GnomAD)
                                  A=0.000035/1 (TOMMO)
                                  A=0.000345/1 (KOREAN)
                                  HGVS:

                                  17.

                                  rs1489092697 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:33301418 (GRCh38)
                                    6:33269195 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:33301417:A:G
                                    Gene:
                                    RGL2 (Varview), TAPBP (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000019/5 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489061325 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      6:33309983 (GRCh38)
                                      6:33277760 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:33309982:C:G
                                      Gene:
                                      TAPBP (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1488750925 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:33311585 (GRCh38)
                                        6:33279362 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:33311584:C:T
                                        Gene:
                                        TAPBP (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00003/8 (TOPMED)
                                        T=0.000043/6 (GnomAD)
                                        T=0.000071/1 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1488509770 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          6:33309680 (GRCh38)
                                          6:33277457 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:33309679:C:A,NC_000006.12:33309679:C:T
                                          Gene:
                                          TAPBP (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/1 (GnomAD)
                                          A=0.014746/43 (KOREAN)
                                          HGVS:

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