Links from Gene
Items: 1 to 20 of 6750
2.
rs1491559066 has merged into rs35310147 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:95431924
(GRCh38)
7:95061236
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95431913:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:95431913:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:95431913:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:95431913:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:95431913:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:95431913:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:95431913:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- PON2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1124/433
(ALSPAC)
A=0.2772/1388
(1000Genomes)
A=0.4147/243
(NorthernSweden)
- HGVS:
NC_000007.14:g.95431924_95431930del, NC_000007.14:g.95431927_95431930del, NC_000007.14:g.95431928_95431930del, NC_000007.14:g.95431929_95431930del, NC_000007.14:g.95431930del, NC_000007.14:g.95431930dup, NC_000007.14:g.95431929_95431930dup, NC_000007.13:g.95061236_95061242del, NC_000007.13:g.95061239_95061242del, NC_000007.13:g.95061240_95061242del, NC_000007.13:g.95061241_95061242del, NC_000007.13:g.95061242del, NC_000007.13:g.95061242dup, NC_000007.13:g.95061241_95061242dup, NG_008725.1:g.8153_8159del, NG_008725.1:g.8156_8159del, NG_008725.1:g.8157_8159del, NG_008725.1:g.8158_8159del, NG_008725.1:g.8159del, NG_008725.1:g.8159dup, NG_008725.1:g.8158_8159dup
4.
rs1491299127 has merged into rs35269697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:95423333
(GRCh38)
7:95052645
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95423321:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.000314/83
(TOPMED)
-=0.126597/634
(1000Genomes)
- HGVS:
NC_000007.14:g.95423333_95423341del, NC_000007.14:g.95423334_95423341del, NC_000007.14:g.95423335_95423341del, NC_000007.14:g.95423336_95423341del, NC_000007.14:g.95423337_95423341del, NC_000007.14:g.95423338_95423341del, NC_000007.14:g.95423339_95423341del, NC_000007.14:g.95423340_95423341del, NC_000007.14:g.95423341del, NC_000007.14:g.95423341dup, NC_000007.14:g.95423340_95423341dup, NC_000007.14:g.95423339_95423341dup, NC_000007.14:g.95423336_95423341dup, NC_000007.14:g.95423335_95423341dup, NC_000007.14:g.95423334_95423341dup, NC_000007.14:g.95423333_95423341dup, NC_000007.13:g.95052645_95052653del, NC_000007.13:g.95052646_95052653del, NC_000007.13:g.95052647_95052653del, NC_000007.13:g.95052648_95052653del, NC_000007.13:g.95052649_95052653del, NC_000007.13:g.95052650_95052653del, NC_000007.13:g.95052651_95052653del, NC_000007.13:g.95052652_95052653del, NC_000007.13:g.95052653del, NC_000007.13:g.95052653dup, NC_000007.13:g.95052652_95052653dup, NC_000007.13:g.95052651_95052653dup, NC_000007.13:g.95052648_95052653dup, NC_000007.13:g.95052647_95052653dup, NC_000007.13:g.95052646_95052653dup, NC_000007.13:g.95052645_95052653dup, NG_008725.1:g.16743_16751del, NG_008725.1:g.16744_16751del, NG_008725.1:g.16745_16751del, NG_008725.1:g.16746_16751del, NG_008725.1:g.16747_16751del, NG_008725.1:g.16748_16751del, NG_008725.1:g.16749_16751del, NG_008725.1:g.16750_16751del, NG_008725.1:g.16751del, NG_008725.1:g.16751dup, NG_008725.1:g.16750_16751dup, NG_008725.1:g.16749_16751dup, NG_008725.1:g.16746_16751dup, NG_008725.1:g.16745_16751dup, NG_008725.1:g.16744_16751dup, NG_008725.1:g.16743_16751dup, XR_007060439.1:n.5575_5583del, XR_007060439.1:n.5576_5583del, XR_007060439.1:n.5577_5583del, XR_007060439.1:n.5578_5583del, XR_007060439.1:n.5579_5583del, XR_007060439.1:n.5580_5583del, XR_007060439.1:n.5581_5583del, XR_007060439.1:n.5582_5583del, XR_007060439.1:n.5583del, XR_007060439.1:n.5583dup, XR_007060439.1:n.5582_5583dup, XR_007060439.1:n.5581_5583dup, XR_007060439.1:n.5578_5583dup, XR_007060439.1:n.5577_5583dup, XR_007060439.1:n.5576_5583dup, XR_007060439.1:n.5575_5583dup
7.
rs1491132264 has merged into rs10674344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:95436146
(GRCh38)
7:95065458
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:95436136:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PON2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.95436146_95436159del, NC_000007.14:g.95436149_95436159del, NC_000007.14:g.95436151_95436159del, NC_000007.14:g.95436152_95436159del, NC_000007.14:g.95436153_95436159del, NC_000007.14:g.95436154_95436159del, NC_000007.14:g.95436155_95436159del, NC_000007.14:g.95436156_95436159del, NC_000007.14:g.95436157_95436159del, NC_000007.14:g.95436158_95436159del, NC_000007.14:g.95436159del, NC_000007.14:g.95436159dup, NC_000007.14:g.95436158_95436159dup, NC_000007.14:g.95436157_95436159dup, NC_000007.14:g.95436156_95436159dup, NC_000007.14:g.95436155_95436159dup, NC_000007.14:g.95436154_95436159dup, NC_000007.14:g.95436153_95436159dup, NC_000007.14:g.95436152_95436159dup, NC_000007.14:g.95436151_95436159dup, NC_000007.14:g.95436150_95436159dup, NC_000007.14:g.95436149_95436159dup, NC_000007.14:g.95436148_95436159dup, NC_000007.14:g.95436146_95436159dup, NC_000007.14:g.95436145_95436159dup, NC_000007.14:g.95436144_95436159dup, NC_000007.14:g.95436140_95436159dup, NC_000007.14:g.95436137_95436159dup, NC_000007.14:g.95436159_95436160insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.95436159_95436160insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.95436137_95436159A[29]CAAAAAA[2]A[33], NC_000007.13:g.95065458_95065471del, NC_000007.13:g.95065461_95065471del, NC_000007.13:g.95065463_95065471del, NC_000007.13:g.95065464_95065471del, NC_000007.13:g.95065465_95065471del, NC_000007.13:g.95065466_95065471del, NC_000007.13:g.95065467_95065471del, NC_000007.13:g.95065468_95065471del, NC_000007.13:g.95065469_95065471del, NC_000007.13:g.95065470_95065471del, NC_000007.13:g.95065471del, NC_000007.13:g.95065471dup, NC_000007.13:g.95065470_95065471dup, NC_000007.13:g.95065469_95065471dup, NC_000007.13:g.95065468_95065471dup, NC_000007.13:g.95065467_95065471dup, NC_000007.13:g.95065466_95065471dup, NC_000007.13:g.95065465_95065471dup, NC_000007.13:g.95065464_95065471dup, NC_000007.13:g.95065463_95065471dup, NC_000007.13:g.95065462_95065471dup, NC_000007.13:g.95065461_95065471dup, NC_000007.13:g.95065460_95065471dup, NC_000007.13:g.95065458_95065471dup, NC_000007.13:g.95065457_95065471dup, NC_000007.13:g.95065456_95065471dup, NC_000007.13:g.95065452_95065471dup, NC_000007.13:g.95065449_95065471dup, NC_000007.13:g.95065471_95065472insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.95065471_95065472insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.95065449_95065471A[29]CAAAAAA[2]A[33], NG_008725.1:g.3923_3936del, NG_008725.1:g.3926_3936del, NG_008725.1:g.3928_3936del, NG_008725.1:g.3929_3936del, NG_008725.1:g.3930_3936del, NG_008725.1:g.3931_3936del, NG_008725.1:g.3932_3936del, NG_008725.1:g.3933_3936del, NG_008725.1:g.3934_3936del, NG_008725.1:g.3935_3936del, NG_008725.1:g.3936del, NG_008725.1:g.3936dup, NG_008725.1:g.3935_3936dup, NG_008725.1:g.3934_3936dup, NG_008725.1:g.3933_3936dup, NG_008725.1:g.3932_3936dup, NG_008725.1:g.3931_3936dup, NG_008725.1:g.3930_3936dup, NG_008725.1:g.3929_3936dup, NG_008725.1:g.3928_3936dup, NG_008725.1:g.3927_3936dup, NG_008725.1:g.3926_3936dup, NG_008725.1:g.3925_3936dup, NG_008725.1:g.3923_3936dup, NG_008725.1:g.3922_3936dup, NG_008725.1:g.3921_3936dup, NG_008725.1:g.3917_3936dup, NG_008725.1:g.3914_3936dup, NG_008725.1:g.3936_3937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008725.1:g.3936_3937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008725.1:g.3914_3936T[39]GTTTTTT[2]T[23]
8.
rs1491020383 has merged into rs1554340815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA,GAGAGAGA
[Show Flanks]
- Chromosome:
- 7:95426269
(GRCh38)
7:95055581
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95426263:AGAGAGAGA:AGAGA,NC_000007.14:95426263:AGAGAGAGA:AGAGAGA,NC_000007.14:95426263:AGAGAGAGA:AGAGAGAGAGA,NC_000007.14:95426263:AGAGAGAGA:AGAGAGAGAGAGA
- Gene:
- PON2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGA=0./0
(
ALFA)
AGAG=0.001/5
(1000Genomes)
AGAG=0.00764/14
(Korea1K)
AGAG=0.03974/666
(TOMMO)
- HGVS:
NC_000007.14:g.95426265GA[2], NC_000007.14:g.95426265GA[3], NC_000007.14:g.95426265GA[5], NC_000007.14:g.95426265GA[6], NC_000007.13:g.95055577GA[2], NC_000007.13:g.95055577GA[3], NC_000007.13:g.95055577GA[5], NC_000007.13:g.95055577GA[6], NG_008725.1:g.13802CT[2], NG_008725.1:g.13802CT[3], NG_008725.1:g.13802CT[5], NG_008725.1:g.13802CT[6]
9.
rs1490969321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:95422253
(GRCh38)
7:95051565
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95422252:T:C
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490867629 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTAG
[Show Flanks]
- Chromosome:
- 7:95405270
(GRCh38)
7:95034583
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95405270:TTAG:TTAGTTAG
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTAGTTAG=0.000071/1
(
ALFA)
TTAG=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.95405271_95405274dup, NC_000007.13:g.95034583_95034586dup, NG_008725.1:g.34799_34802dup, NM_000305.3:c.*56_*59dup, NM_000305.2:c.*56_*59dup, NM_001018161.2:c.*56_*59dup, NM_001018161.1:c.*56_*59dup, XM_017012357.3:c.*56_*59dup, XM_017012357.2:c.*56_*59dup, XM_017012357.1:c.*56_*59dup, XM_005250453.2:c.*56_*59dup, XM_005250453.1:c.*56_*59dup
13.
rs1490467649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:95413772
(GRCh38)
7:95043084
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95413771:T:C
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490389122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:95420692
(GRCh38)
7:95050004
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95420691:G:C
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000895/4
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000893/4
(Estonian)
- HGVS:
15.
rs1490362118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:95417861
(GRCh38)
7:95047173
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95417860:T:C
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
16.
rs1490249761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:95413924
(GRCh38)
7:95043236
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95413923:A:G
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
17.
rs1490223066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:95431201
(GRCh38)
7:95060513
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95431200:A:G
- Gene:
- PON2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490143356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:95412791
(GRCh38)
7:95042103
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95412790:T:C
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490055741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:95423199
(GRCh38)
7:95052511
(GRCh37)
- Canonical SPDI:
- NC_000007.14:95423198:G:A
- Gene:
- PON2 (Varview), LOC107986822 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: