SNP Links for Gene (Select 2697) - SNP

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Select item 14915605321.

rs1491560532 has merged into rs11333433 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 6:121436193 (GRCh38)
6:121757339 (GRCh37)
Canonical SPDI:: NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.121436193_121436194del, NC_000006.12:g.121436194del, NC_000006.12:g.121436194dup, NC_000006.12:g.121436193_121436194dup, NC_000006.12:g.121436192_121436194dup, NC_000006.12:g.121436191_121436194dup, NC_000006.12:g.121436190_121436194dup, NC_000006.12:g.121436189_121436194dup, NC_000006.11:g.121757339_121757340del, NC_000006.11:g.121757340del, NC_000006.11:g.121757340dup, NC_000006.11:g.121757339_121757340dup, NC_000006.11:g.121757338_121757340dup, NC_000006.11:g.121757337_121757340dup, NC_000006.11:g.121757336_121757340dup, NC_000006.11:g.121757335_121757340dup, NG_008308.1:g.5595_5596del, NG_008308.1:g.5596del, NG_008308.1:g.5596dup, NG_008308.1:g.5595_5596dup, NG_008308.1:g.5594_5596dup, NG_008308.1:g.5593_5596dup, NG_008308.1:g.5592_5596dup, NG_008308.1:g.5591_5596dup

Select item 14914921312.

rs1491492131 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:121436184 (GRCh38)
6:121757330 (GRCh37)
Canonical SPDI:: NC_000006.12:121436182:GTG:G
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01113/132 (ALFA)
-=0.00501/21 (Estonian)
HGVS:: NC_000006.12:g.121436184_121436185del, NC_000006.11:g.121757330_121757331del, NG_008308.1:g.5586_5587del

Select item 14914421633.

rs1491442163 has merged into rs11333433 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 6:121436193 (GRCh38)
6:121757339 (GRCh37)
Canonical SPDI:: NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000006.12:121436184:GGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.121436193_121436194del, NC_000006.12:g.121436194del, NC_000006.12:g.121436194dup, NC_000006.12:g.121436193_121436194dup, NC_000006.12:g.121436192_121436194dup, NC_000006.12:g.121436191_121436194dup, NC_000006.12:g.121436190_121436194dup, NC_000006.12:g.121436189_121436194dup, NC_000006.11:g.121757339_121757340del, NC_000006.11:g.121757340del, NC_000006.11:g.121757340dup, NC_000006.11:g.121757339_121757340dup, NC_000006.11:g.121757338_121757340dup, NC_000006.11:g.121757337_121757340dup, NC_000006.11:g.121757336_121757340dup, NC_000006.11:g.121757335_121757340dup, NG_008308.1:g.5595_5596del, NG_008308.1:g.5596del, NG_008308.1:g.5596dup, NG_008308.1:g.5595_5596dup, NG_008308.1:g.5594_5596dup, NG_008308.1:g.5593_5596dup, NG_008308.1:g.5592_5596dup, NG_008308.1:g.5591_5596dup

Select item 14914102444.

rs1491410244 has merged into rs1171586137 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T [Show Flanks]
Chromosome:: 6:121440912 (GRCh38)
6:121762058 (GRCh37)
Canonical SPDI:: NC_000006.12:121440908:TTTTTT:TTT,NC_000006.12:121440908:TTTTTT:TTTT
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.121440912_121440914del, NC_000006.12:g.121440913_121440914del, NC_000006.11:g.121762058_121762060del, NC_000006.11:g.121762059_121762060del, NG_008308.1:g.10314_10316del, NG_008308.1:g.10315_10316del

Select item 14913518645.

rs1491351864 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:121436183 (GRCh38)
6:121757330 (GRCh37)
Canonical SPDI:: NC_000006.12:121436183:T:TT
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00274/257 (GnomAD)
HGVS:: NC_000006.12:g.121436184dup, NC_000006.11:g.121757330dup, NG_008308.1:g.5586dup

Select item 14912212836.

rs1491221283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT,GTTGTT [Show Flanks]
Chromosome:: 6:121440909 (GRCh38)
6:121762056 (GRCh37)
Canonical SPDI:: NC_000006.12:121440909:TT:TTGTT,NC_000006.12:121440909:TT:TTGTTGTT
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGTTGTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.121440911_121440912insGTT, NC_000006.12:g.121440911_121440912insGTTGTT, NC_000006.11:g.121762057_121762058insGTT, NC_000006.11:g.121762057_121762058insGTTGTT, NG_008308.1:g.10313_10314insGTT, NG_008308.1:g.10313_10314insGTTGTT

Select item 14907991647.

rs1490799164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:121442277 (GRCh38)
6:121763423 (GRCh37)
Canonical SPDI:: NC_000006.12:121442276:A:G
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.121442277A>G, NC_000006.11:g.121763423A>G, NG_008308.1:g.11679A>G

Select item 14907732078.

rs1490773207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:121443359 (GRCh38)
6:121764505 (GRCh37)
Canonical SPDI:: NC_000006.12:121443358:A:G
Gene:: GJA1 (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:: NC_000006.12:g.121443359A>G, NC_000006.11:g.121764505A>G, NG_008308.1:g.12761A>G

Select item 14906055639.

rs1490605563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:121443919 (GRCh38)
6:121765065 (GRCh37)
Canonical SPDI:: NC_000006.12:121443918:A:C,NC_000006.12:121443918:A:T
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.121443919A>C, NC_000006.12:g.121443919A>T, NC_000006.11:g.121765065A>C, NC_000006.11:g.121765065A>T, NG_008308.1:g.13321A>C, NG_008308.1:g.13321A>T

Select item 149054298810.

rs1490542988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:121437549 (GRCh38)
6:121758695 (GRCh37)
Canonical SPDI:: NC_000006.12:121437548:C:T
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.121437549C>T, NC_000006.11:g.121758695C>T, NG_008308.1:g.6951C>T

Select item 149006543111.

rs1490065431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:121436200 (GRCh38)
6:121757346 (GRCh37)
Canonical SPDI:: NC_000006.12:121436199:A:C,NC_000006.12:121436199:A:G
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00649/77 (ALFA)
C=0.00321/53 (TOMMO)
G=0.01585/46 (KOREAN)
HGVS:: NC_000006.12:g.121436200A>C, NC_000006.12:g.121436200A>G, NC_000006.11:g.121757346A>C, NC_000006.11:g.121757346A>G, NG_008308.1:g.5602A>C, NG_008308.1:g.5602A>G

Select item 148993861412.

rs1489938614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:121436076 (GRCh38)
6:121757222 (GRCh37)
Canonical SPDI:: NC_000006.12:121436075:A:G
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.121436076A>G, NC_000006.11:g.121757222A>G, NG_008308.1:g.5478A>G

Select item 148988496613.

rs1489884966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:121450054 (GRCh38)
6:121771200 (GRCh37)
Canonical SPDI:: NC_000006.12:121450053:C:A
Gene:: GJA1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.121450054C>A, NC_000006.11:g.121771200C>A, NG_008308.1:g.19456C>A

Select item 148976297814.

rs1489762978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:121449847 (GRCh38)
6:121770993 (GRCh37)
Canonical SPDI:: NC_000006.12:121449846:A:G
Gene:: GJA1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.121449847A>G, NC_000006.11:g.121770993A>G, NG_008308.1:g.19249A>G

Select item 148965815815.

rs1489658158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:121435595 (GRCh38)
6:121756741 (GRCh37)
Canonical SPDI:: NC_000006.12:121435594:A:G
Gene:: GJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.121435595A>G, NC_000006.11:g.121756741A>G, NG_008308.1:g.4997A>G, NM_000165.4:c.-254A>G

Select item 148965386716.

rs1489653867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:121438528 (GRCh38)
6:121759674 (GRCh37)
Canonical SPDI:: NC_000006.12:121438527:T:A
Gene:: GJA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002866/34 (ALFA)
A=0.001874/12 (1000Genomes)
A=0.003159/443 (GnomAD)
HGVS:: NC_000006.12:g.121438528T>A, NC_000006.11:g.121759674T>A, NG_008308.1:g.7930T>A

Select item 148936925317.

rs1489369253 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:121448257 (GRCh38)
6:121769403 (GRCh37)
Canonical SPDI:: NC_000006.12:121448254:AGAG:AG
Gene:: GJA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.121448255AG[1], NC_000006.11:g.121769401AG[1], NG_008308.1:g.17657AG[1], NM_000165.5:c.*259AG[1], NM_000165.4:c.*259AG[1], NM_000165.3:c.*259AG[1]

Select item 148920132018.

rs1489201320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:121434260 (GRCh38)
6:121755406 (GRCh37)
Canonical SPDI:: NC_000006.12:121434259:G:A,NC_000006.12:121434259:G:C,NC_000006.12:121434259:G:T
Gene:: GJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.121434260G>A, NC_000006.12:g.121434260G>C, NC_000006.12:g.121434260G>T, NC_000006.11:g.121755406G>A, NC_000006.11:g.121755406G>C, NC_000006.11:g.121755406G>T, NG_008308.1:g.3662G>A, NG_008308.1:g.3662G>C, NG_008308.1:g.3662G>T

Select item 148913047319.

rs1489130473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:121441329 (GRCh38)
6:121762475 (GRCh37)
Canonical SPDI:: NC_000006.12:121441328:T:G
Gene:: GJA1 (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:: NC_000006.12:g.121441329T>G, NC_000006.11:g.121762475T>G, NG_008308.1:g.10731T>G

Select item 148887816820.

rs1488878168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:121434714 (GRCh38)
6:121755860 (GRCh37)
Canonical SPDI:: NC_000006.12:121434713:C:G
Gene:: GJA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.121434714C>G, NC_000006.11:g.121755860C>G, NG_008308.1:g.4116C>G

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