Links from Gene
Items: 1 to 20 of 14258
1.
rs1491583385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 2:10798570
(GRCh38)
2:10938696
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10798568:CAC:C
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.2105/2497
(
ALFA)
-=0.00057/1
(Korea1K)
- HGVS:
2.
rs1491554296 has merged into rs59417410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:10832027
(GRCh38)
2:10972153
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10832016:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.10832027_10832037del, NC_000002.12:g.10832028_10832037del, NC_000002.12:g.10832029_10832037del, NC_000002.12:g.10832030_10832037del, NC_000002.12:g.10832031_10832037del, NC_000002.12:g.10832032_10832037del, NC_000002.12:g.10832033_10832037del, NC_000002.12:g.10832034_10832037del, NC_000002.12:g.10832035_10832037del, NC_000002.12:g.10832036_10832037del, NC_000002.12:g.10832037del, NC_000002.12:g.10832037dup, NC_000002.12:g.10832036_10832037dup, NC_000002.12:g.10832035_10832037dup, NC_000002.12:g.10832034_10832037dup, NC_000002.12:g.10832033_10832037dup, NC_000002.12:g.10832032_10832037dup, NC_000002.12:g.10832031_10832037dup, NC_000002.12:g.10832030_10832037dup, NC_000002.12:g.10832028_10832037dup, NC_000002.11:g.10972153_10972163del, NC_000002.11:g.10972154_10972163del, NC_000002.11:g.10972155_10972163del, NC_000002.11:g.10972156_10972163del, NC_000002.11:g.10972157_10972163del, NC_000002.11:g.10972158_10972163del, NC_000002.11:g.10972159_10972163del, NC_000002.11:g.10972160_10972163del, NC_000002.11:g.10972161_10972163del, NC_000002.11:g.10972162_10972163del, NC_000002.11:g.10972163del, NC_000002.11:g.10972163dup, NC_000002.11:g.10972162_10972163dup, NC_000002.11:g.10972161_10972163dup, NC_000002.11:g.10972160_10972163dup, NC_000002.11:g.10972159_10972163dup, NC_000002.11:g.10972158_10972163dup, NC_000002.11:g.10972157_10972163dup, NC_000002.11:g.10972156_10972163dup, NC_000002.11:g.10972154_10972163dup
3.
rs1491551027 has merged into rs1553339929 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GACAGACAGACAGACAGAAAGAAAGAAAGA,GACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGA,GACAGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGA,GAGA
[Show Flanks]
- Chromosome:
- 2:10806630
(GRCh38)
2:10946756
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10806628:AGA:A,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGACAGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGA,NC_000002.12:10806628:AGA:AGAGA
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGACAGACAGACAGACAGAAAGAAAGAAAGA=0./0
(
ALFA)
AGACAGACAGACAGACAGACAGACAGAAAGAA=0.000004/1
(TOPMED)
-=0.024136/640
(TOMMO)
-=0.046053/7
(Vietnamese)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000002.12:g.10806630_10806631del, NC_000002.12:g.10806629_10806631AGAC[4]AGAA[3]AGA[1], NC_000002.12:g.10806629_10806631AGAC[4]AGAA[5]AGA[1], NC_000002.12:g.10806629_10806631AGAC[4]AGAA[6]AGA[1], NC_000002.12:g.10806629_10806631AGAC[4]AGAA[7]AGA[1], NC_000002.12:g.10806629_10806631AGAC[4]AGAA[8]AGA[1], NC_000002.12:g.10806629_10806631AGAC[4]AGAA[9]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAAAGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[2]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[3]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[4]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[5]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[6]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[7]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[8]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[9]AGA[1], NC_000002.12:g.10806629_10806631AGAC[5]AGAA[4]AGGAAGAAAGAAAGAAAGA[1], NC_000002.12:g.10806629_10806631AGAC[6]AGAA[2]AGA[1], NC_000002.12:g.10806629_10806631AGAC[6]AGAA[3]AGA[1], NC_000002.12:g.10806629_10806631AGAC[6]AGAA[4]AGA[1], NC_000002.12:g.10806629_10806631AGAC[6]AGAA[5]AGA[1], NC_000002.12:g.10806629_10806631AGAC[6]AGAA[6]AGA[1], NC_000002.12:g.10806629_10806631AGAC[6]AGAA[7]AGA[1], NC_000002.12:g.10806629_10806631AGAC[7]AGAA[3]AGA[1], NC_000002.12:g.10806629_10806631AGAC[7]AGAA[4]AGA[1], NC_000002.12:g.10806630_10806631dup, NC_000002.11:g.10946756_10946757del, NC_000002.11:g.10946755_10946757AGAC[4]AGAA[3]AGA[1], NC_000002.11:g.10946755_10946757AGAC[4]AGAA[5]AGA[1], NC_000002.11:g.10946755_10946757AGAC[4]AGAA[6]AGA[1], NC_000002.11:g.10946755_10946757AGAC[4]AGAA[7]AGA[1], NC_000002.11:g.10946755_10946757AGAC[4]AGAA[8]AGA[1], NC_000002.11:g.10946755_10946757AGAC[4]AGAA[9]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAAAGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[2]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[3]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[4]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[5]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[6]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[7]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[8]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[9]AGA[1], NC_000002.11:g.10946755_10946757AGAC[5]AGAA[4]AGGAAGAAAGAAAGAAAGA[1], NC_000002.11:g.10946755_10946757AGAC[6]AGAA[2]AGA[1], NC_000002.11:g.10946755_10946757AGAC[6]AGAA[3]AGA[1], NC_000002.11:g.10946755_10946757AGAC[6]AGAA[4]AGA[1], NC_000002.11:g.10946755_10946757AGAC[6]AGAA[5]AGA[1], NC_000002.11:g.10946755_10946757AGAC[6]AGAA[6]AGA[1], NC_000002.11:g.10946755_10946757AGAC[6]AGAA[7]AGA[1], NC_000002.11:g.10946755_10946757AGAC[7]AGAA[3]AGA[1], NC_000002.11:g.10946755_10946757AGAC[7]AGAA[4]AGA[1], NC_000002.11:g.10946756_10946757dup
5.
rs1491365015 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:10816526
(GRCh38)
2:10956652
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10816524:TCT:T
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
-=0.00019/26
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
6.
rs1491312938 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:10818534
(GRCh38)
2:10958660
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10818532:TAT:T
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.075873/900
(
ALFA)
-=0.006734/4
(NorthernSweden)
-=0.059856/6513
(GnomAD)
- HGVS:
9.
rs1491247470 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:10798573
(GRCh38)
2:10938699
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10798572:CA:
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00007/2
(TOMMO)
-=0.00012/11
(GnomAD)
- HGVS:
10.
rs1491227245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTT
[Show Flanks]
- Chromosome:
- 2:10785758
(GRCh38)
2:10925885
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10785758:TCTTT:TCTTTCTTT
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTTTCTTT=0.000071/1
(
ALFA)
TCTT=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491208582 has merged into rs80344702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:10806033
(GRCh38)
2:10946159
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:10806025:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.10806033_10806044del, NC_000002.12:g.10806037_10806044del, NC_000002.12:g.10806038_10806044del, NC_000002.12:g.10806039_10806044del, NC_000002.12:g.10806040_10806044del, NC_000002.12:g.10806041_10806044del, NC_000002.12:g.10806042_10806044del, NC_000002.12:g.10806043_10806044del, NC_000002.12:g.10806044del, NC_000002.12:g.10806044dup, NC_000002.12:g.10806043_10806044dup, NC_000002.12:g.10806042_10806044dup, NC_000002.12:g.10806041_10806044dup, NC_000002.12:g.10806035_10806044dup, NC_000002.11:g.10946159_10946170del, NC_000002.11:g.10946163_10946170del, NC_000002.11:g.10946164_10946170del, NC_000002.11:g.10946165_10946170del, NC_000002.11:g.10946166_10946170del, NC_000002.11:g.10946167_10946170del, NC_000002.11:g.10946168_10946170del, NC_000002.11:g.10946169_10946170del, NC_000002.11:g.10946170del, NC_000002.11:g.10946170dup, NC_000002.11:g.10946169_10946170dup, NC_000002.11:g.10946168_10946170dup, NC_000002.11:g.10946167_10946170dup, NC_000002.11:g.10946161_10946170dup
12.
rs1491190744 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:10818487
(GRCh38)
2:10958614
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10818487::A
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00007/1
(TOMMO)
A=0.00077/51
(GnomAD)
- HGVS:
13.
rs1491187872 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAG,AAGAAAG,AAGAAAGAAAGAAC,AAGAAAGAAAGAAG,AAGAAC,AAGAAG,AC,AG,AGAAC
[Show Flanks]
- Chromosome:
- 2:10806629
(GRCh38)
2:10946756
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10806629::AAG,NC_000002.12:10806629::AAGAAAG,NC_000002.12:10806629::AAGAAAGAAAGAAC,NC_000002.12:10806629::AAGAAAGAAAGAAG,NC_000002.12:10806629::AAGAAC,NC_000002.12:10806629::AAGAAG,NC_000002.12:10806629::AC,NC_000002.12:10806629::AG,NC_000002.12:10806629::AGAAC
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAAG=0./0
(
ALFA)
AC=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.10806629_10806630insAAG, NC_000002.12:g.10806629_10806630insAAGAAAG, NC_000002.12:g.10806629_10806630insAAGAAAGAAAGAAC, NC_000002.12:g.10806629_10806630insAAGAAAGAAAGAAG, NC_000002.12:g.10806629_10806630insAAGAAC, NC_000002.12:g.10806629_10806630insAAGAAG, NC_000002.12:g.10806629_10806630insAC, NC_000002.12:g.10806629_10806630insAG, NC_000002.12:g.10806629_10806630insAGAAC, NC_000002.11:g.10946755_10946756insAAG, NC_000002.11:g.10946755_10946756insAAGAAAG, NC_000002.11:g.10946755_10946756insAAGAAAGAAAGAAC, NC_000002.11:g.10946755_10946756insAAGAAAGAAAGAAG, NC_000002.11:g.10946755_10946756insAAGAAC, NC_000002.11:g.10946755_10946756insAAGAAG, NC_000002.11:g.10946755_10946756insAC, NC_000002.11:g.10946755_10946756insAG, NC_000002.11:g.10946755_10946756insAGAAC
15.
rs1491144180 has merged into rs750321012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTATTTATTTATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTT,ATTTATTTATTTATTT,ATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
[Show Flanks]
- Chromosome:
- 2:10818514
(GRCh38)
2:10958640
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000002.12:10818481:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTTATTTATTTATTTATTTATTTATTTATTTATTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.10818482ATTT[8], NC_000002.12:g.10818482ATTT[9], NC_000002.12:g.10818482ATTT[10], NC_000002.12:g.10818482ATTT[11], NC_000002.12:g.10818482ATTT[12], NC_000002.12:g.10818482ATTT[13], NC_000002.12:g.10818482ATTT[15], NC_000002.12:g.10818482ATTT[16], NC_000002.12:g.10818482ATTT[17], NC_000002.12:g.10818482ATTT[18], NC_000002.11:g.10958608ATTT[8], NC_000002.11:g.10958608ATTT[9], NC_000002.11:g.10958608ATTT[10], NC_000002.11:g.10958608ATTT[11], NC_000002.11:g.10958608ATTT[12], NC_000002.11:g.10958608ATTT[13], NC_000002.11:g.10958608ATTT[15], NC_000002.11:g.10958608ATTT[16], NC_000002.11:g.10958608ATTT[17], NC_000002.11:g.10958608ATTT[18]
16.
rs1491115427 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:10785760
(GRCh38)
2:10925886
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10785757:CTCT:CT
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1491057546 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 2:10788080
(GRCh38)
2:10928206
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10788079:AG:
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1491046394 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:10790235
(GRCh38)
2:10930362
(GRCh37)
- Canonical SPDI:
- NC_000002.12:10790235:T:TT
- Gene:
- PDIA6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0.000169/2
(
ALFA)
T=0.00005/7
(GnomAD)
- HGVS: