SNP Links for Gene (Select 10985) - SNP

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Select item 14915866101.

rs1491586610 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:120169277 (GRCh38)
12:120607082 (GRCh37)
Canonical SPDI:: NC_000012.12:120169277::G
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00801/95 (ALFA)
G=0.00009/1 (GnomAD)
G=0.00253/1 (NorthernSweden)
HGVS:: NC_000012.12:g.120169277_120169278insG, NC_000012.11:g.120607081_120607082insG

Select item 14915849482.

rs1491584948 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:120132305 (GRCh38)
12:120570109 (GRCh37)
Canonical SPDI:: NC_000012.12:120132304:CT:
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.120132305_120132306del, NC_000012.11:g.120570109_120570110del

Select item 14915664713.

rs1491566471 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:120195626 (GRCh38)
12:120633430 (GRCh37)
Canonical SPDI:: NC_000012.12:120195626::G
Gene:: GCN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0005/2 (ALFA)
HGVS:: NC_000012.12:g.120195626_120195627insG, NC_000012.11:g.120633429_120633430insG, NM_176827.1:c.-86677_-86676insG

Select item 14915291114.

rs1491529111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATAAATATATATATATTTATATATA [Show Flanks]
Chromosome:: 12:120152662 (GRCh38)
12:120590467 (GRCh37)
Canonical SPDI:: NC_000012.12:120152662:TATATATATATAAATATATATATATTTATATATA:TATATATATATAAATATATATATATTTATATATATATAAATATATATATATTTATATATA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TATATATATATAAATATATATATATT=0.000016/2 (GnomAD)
HGVS:: NC_000012.12:g.120152671_120152696dup, NC_000012.11:g.120590475_120590500dup

Select item 14915216445.

rs1491521644 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:120167352 (GRCh38)
12:120605156 (GRCh37)
Canonical SPDI:: NC_000012.12:120167351:CA:
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00122/34 (TOMMO)
HGVS:: NC_000012.12:g.120167352_120167353del, NC_000012.11:g.120605156_120605157del

Select item 14914701986.

rs1491470198 has merged into rs35819206 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:120169278 (GRCh38)
12:120607082 (GRCh37)
Canonical SPDI:: NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:A,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120169276:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000098/26 (TOPMED)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000012.12:g.120169278_120169295del, NC_000012.12:g.120169279_120169295del, NC_000012.12:g.120169280_120169295del, NC_000012.12:g.120169281_120169295del, NC_000012.12:g.120169282_120169295del, NC_000012.12:g.120169283_120169295del, NC_000012.12:g.120169284_120169295del, NC_000012.12:g.120169285_120169295del, NC_000012.12:g.120169286_120169295del, NC_000012.12:g.120169287_120169295del, NC_000012.12:g.120169288_120169295del, NC_000012.12:g.120169289_120169295del, NC_000012.12:g.120169290_120169295del, NC_000012.12:g.120169291_120169295del, NC_000012.12:g.120169292_120169295del, NC_000012.12:g.120169293_120169295del, NC_000012.12:g.120169294_120169295del, NC_000012.12:g.120169295del, NC_000012.12:g.120169295dup, NC_000012.12:g.120169294_120169295dup, NC_000012.12:g.120169293_120169295dup, NC_000012.12:g.120169292_120169295dup, NC_000012.12:g.120169291_120169295dup, NC_000012.12:g.120169290_120169295dup, NC_000012.12:g.120169289_120169295dup, NC_000012.12:g.120169288_120169295dup, NC_000012.12:g.120169287_120169295dup, NC_000012.12:g.120169286_120169295dup, NC_000012.12:g.120169285_120169295dup, NC_000012.12:g.120169284_120169295dup, NC_000012.12:g.120169283_120169295dup, NC_000012.12:g.120169282_120169295dup, NC_000012.12:g.120169281_120169295dup, NC_000012.12:g.120169280_120169295dup, NC_000012.12:g.120169279_120169295dup, NC_000012.12:g.120169278_120169295dup, NC_000012.12:g.120169277_120169295dup, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120169295_120169296insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607082_120607099del, NC_000012.11:g.120607083_120607099del, NC_000012.11:g.120607084_120607099del, NC_000012.11:g.120607085_120607099del, NC_000012.11:g.120607086_120607099del, NC_000012.11:g.120607087_120607099del, NC_000012.11:g.120607088_120607099del, NC_000012.11:g.120607089_120607099del, NC_000012.11:g.120607090_120607099del, NC_000012.11:g.120607091_120607099del, NC_000012.11:g.120607092_120607099del, NC_000012.11:g.120607093_120607099del, NC_000012.11:g.120607094_120607099del, NC_000012.11:g.120607095_120607099del, NC_000012.11:g.120607096_120607099del, NC_000012.11:g.120607097_120607099del, NC_000012.11:g.120607098_120607099del, NC_000012.11:g.120607099del, NC_000012.11:g.120607099dup, NC_000012.11:g.120607098_120607099dup, NC_000012.11:g.120607097_120607099dup, NC_000012.11:g.120607096_120607099dup, NC_000012.11:g.120607095_120607099dup, NC_000012.11:g.120607094_120607099dup, NC_000012.11:g.120607093_120607099dup, NC_000012.11:g.120607092_120607099dup, NC_000012.11:g.120607091_120607099dup, NC_000012.11:g.120607090_120607099dup, NC_000012.11:g.120607089_120607099dup, NC_000012.11:g.120607088_120607099dup, NC_000012.11:g.120607087_120607099dup, NC_000012.11:g.120607086_120607099dup, NC_000012.11:g.120607085_120607099dup, NC_000012.11:g.120607084_120607099dup, NC_000012.11:g.120607083_120607099dup, NC_000012.11:g.120607082_120607099dup, NC_000012.11:g.120607081_120607099dup, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.120607099_120607100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913837487.

rs1491383748 has merged into rs963596285 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:120173068 (GRCh38)
12:120610872 (GRCh37)
Canonical SPDI:: NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120173057:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.033333/20 (NorthernSweden)
HGVS:: NC_000012.12:g.120173068_120173075del, NC_000012.12:g.120173069_120173075del, NC_000012.12:g.120173070_120173075del, NC_000012.12:g.120173071_120173075del, NC_000012.12:g.120173072_120173075del, NC_000012.12:g.120173073_120173075del, NC_000012.12:g.120173074_120173075del, NC_000012.12:g.120173075del, NC_000012.12:g.120173075dup, NC_000012.12:g.120173074_120173075dup, NC_000012.12:g.120173073_120173075dup, NC_000012.12:g.120173072_120173075dup, NC_000012.11:g.120610872_120610879del, NC_000012.11:g.120610873_120610879del, NC_000012.11:g.120610874_120610879del, NC_000012.11:g.120610875_120610879del, NC_000012.11:g.120610876_120610879del, NC_000012.11:g.120610877_120610879del, NC_000012.11:g.120610878_120610879del, NC_000012.11:g.120610879del, NC_000012.11:g.120610879dup, NC_000012.11:g.120610878_120610879dup, NC_000012.11:g.120610877_120610879dup, NC_000012.11:g.120610876_120610879dup

Select item 14913590988.

rs1491359098 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA [Show Flanks]
Chromosome:: 12:120165052 (GRCh38)
12:120602857 (GRCh37)
Canonical SPDI:: NC_000012.12:120165052::A,NC_000012.12:120165052::ATA,NC_000012.12:120165052::ATATA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
A=0.00042/7 (TOMMO)
A=0.00164/3 (Korea1K)
HGVS:: NC_000012.12:g.120165052_120165053insA, NC_000012.12:g.120165052_120165053insATA, NC_000012.12:g.120165052_120165053insATATA, NC_000012.11:g.120602856_120602857insA, NC_000012.11:g.120602856_120602857insATA, NC_000012.11:g.120602856_120602857insATATA

Select item 14913496809.

rs1491349680 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 12:120143587 (GRCh38)
12:120581391 (GRCh37)
Canonical SPDI:: NC_000012.12:120143586:GG:
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000184/3 (ALFA)
-=0.002051/257 (GnomAD)
-=0.005931/98 (TOMMO)
HGVS:: NC_000012.12:g.120143587_120143588del, NC_000012.11:g.120581391_120581392del

Select item 149132834210.

rs1491328342 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:120196080 (GRCh38)
12:120633884 (GRCh37)
Canonical SPDI:: NC_000012.12:120196080:T:TT
Gene:: GCN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000566/9 (TOMMO)
HGVS:: NC_000012.12:g.120196081dup, NC_000012.11:g.120633884dup, NM_176827.1:c.-86222dup

Select item 149132303911.

rs1491323039 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:120196080 (GRCh38)
12:120633883 (GRCh37)
Canonical SPDI:: NC_000012.12:120196079:CT:
Gene:: GCN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.120196080_120196081del, NC_000012.11:g.120633883_120633884del, NM_176827.1:c.-86223_-86222del

Select item 149128630412.

rs1491286304 has merged into rs10555637 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 12:120192742 (GRCh38)
12:120630545 (GRCh37)
Canonical SPDI:: NC_000012.12:120192732:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:120192732:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:120192732:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:120192732:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:120192732:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:120192732:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:120192732:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.13715/79 (NorthernSweden)
-=0.14738/568 (ALSPAC)
-=0.1486/551 (TWINSUK)
-=0.29014/1453 (1000Genomes)
HGVS:: NC_000012.12:g.120192742_120192747del, NC_000012.12:g.120192744_120192747del, NC_000012.12:g.120192745_120192747del, NC_000012.12:g.120192746_120192747del, NC_000012.12:g.120192747del, NC_000012.12:g.120192747dup, NC_000012.12:g.120192746_120192747dup, NC_000012.11:g.120630545_120630550del, NC_000012.11:g.120630547_120630550del, NC_000012.11:g.120630548_120630550del, NC_000012.11:g.120630549_120630550del, NC_000012.11:g.120630550del, NC_000012.11:g.120630550dup, NC_000012.11:g.120630549_120630550dup, NM_176827.1:c.-89561_-89556del, NM_176827.1:c.-89559_-89556del, NM_176827.1:c.-89558_-89556del, NM_176827.1:c.-89557_-89556del, NM_176827.1:c.-89556del, NM_176827.1:c.-89556dup, NM_176827.1:c.-89557_-89556dup

Select item 149126523513.

rs1491265235 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:120175150 (GRCh38)
12:120612953 (GRCh37)
Canonical SPDI:: NC_000012.12:120175148:AGA:A
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000184/3 (ALFA)
-=0.000321/5 (TOMMO)
-=0.001666/193 (ExAC)
HGVS:: NC_000012.12:g.120175150_120175151del, NC_000012.11:g.120612953_120612954del

Select item 149125507414.

rs1491255074 has merged into rs398055996 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 12:120143602 (GRCh38)
12:120581406 (GRCh37)
Canonical SPDI:: NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:120143588:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.120143602_120143604del, NC_000012.12:g.120143603_120143604del, NC_000012.12:g.120143604del, NC_000012.12:g.120143604dup, NC_000012.12:g.120143603_120143604dup, NC_000012.12:g.120143602_120143604dup, NC_000012.12:g.120143601_120143604dup, NC_000012.12:g.120143600_120143604dup, NC_000012.11:g.120581406_120581408del, NC_000012.11:g.120581407_120581408del, NC_000012.11:g.120581408del, NC_000012.11:g.120581408dup, NC_000012.11:g.120581407_120581408dup, NC_000012.11:g.120581406_120581408dup, NC_000012.11:g.120581405_120581408dup, NC_000012.11:g.120581404_120581408dup

Select item 149121272215.

rs1491212722 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACACACACATA,CACACACATA,CACACATA,CACATA,CACATATA,CAGA,CATA [Show Flanks]
Chromosome:: 12:120165036 (GRCh38)
12:120602841 (GRCh37)
Canonical SPDI:: NC_000012.12:120165036:A:ACACACACACACACATA,NC_000012.12:120165036:A:ACACACACATA,NC_000012.12:120165036:A:ACACACATA,NC_000012.12:120165036:A:ACACATA,NC_000012.12:120165036:A:ACACATATA,NC_000012.12:120165036:A:ACAGA,NC_000012.12:120165036:A:ACATA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACATA=0./0 (ALFA)
HGVS:: NC_000012.12:g.120165037AC[7]ATA[1], NC_000012.12:g.120165037AC[4]ATA[1], NC_000012.12:g.120165037AC[3]ATA[1], NC_000012.12:g.120165037AC[2]ATA[1], NC_000012.12:g.120165037AC[2]AT[2]A[1], NC_000012.12:g.120165037_120165038insCAGA, NC_000012.12:g.120165037_120165038insCATA, NC_000012.11:g.120602841AC[7]ATA[1], NC_000012.11:g.120602841AC[4]ATA[1], NC_000012.11:g.120602841AC[3]ATA[1], NC_000012.11:g.120602841AC[2]ATA[1], NC_000012.11:g.120602841AC[2]AT[2]A[1], NC_000012.11:g.120602841_120602842insCAGA, NC_000012.11:g.120602841_120602842insCATA

Select item 149118925416.

rs1491189254 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:120192732 (GRCh38)
12:120630535 (GRCh37)
Canonical SPDI:: NC_000012.12:120192731:GA:
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000012.12:g.120192732_120192733del, NC_000012.11:g.120630535_120630536del, NM_176827.1:c.-89571_-89570del

Select item 149117538817.

rs1491175388 has merged into rs60284535 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:120165058 (GRCh38)
12:120602862 (GRCh37)
Canonical SPDI:: NC_000012.12:120165051:TTTTTTTTTTT:TTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120165051:TTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.120165058_120165062del, NC_000012.12:g.120165059_120165062del, NC_000012.12:g.120165060_120165062del, NC_000012.12:g.120165061_120165062del, NC_000012.12:g.120165062del, NC_000012.12:g.120165062dup, NC_000012.12:g.120165061_120165062dup, NC_000012.12:g.120165060_120165062dup, NC_000012.12:g.120165059_120165062dup, NC_000012.12:g.120165058_120165062dup, NC_000012.11:g.120602862_120602866del, NC_000012.11:g.120602863_120602866del, NC_000012.11:g.120602864_120602866del, NC_000012.11:g.120602865_120602866del, NC_000012.11:g.120602866del, NC_000012.11:g.120602866dup, NC_000012.11:g.120602865_120602866dup, NC_000012.11:g.120602864_120602866dup, NC_000012.11:g.120602863_120602866dup, NC_000012.11:g.120602862_120602866dup

Select item 149114776918.

rs1491147769 has merged into rs1160511017 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 12:120152671 (GRCh38)
12:120590475 (GRCh37)
Canonical SPDI:: NC_000012.12:120152661:ATATATATATATA:ATATATATA,NC_000012.12:120152661:ATATATATATATA:ATATATATATA,NC_000012.12:120152661:ATATATATATATA:ATATATATATATATA,NC_000012.12:120152661:ATATATATATATA:ATATATATATATATATA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.00333/2 (NorthernSweden)
HGVS:: NC_000012.12:g.120152663TA[4], NC_000012.12:g.120152663TA[5], NC_000012.12:g.120152663TA[7], NC_000012.12:g.120152663TA[8], NC_000012.11:g.120590467TA[4], NC_000012.11:g.120590467TA[5], NC_000012.11:g.120590467TA[7], NC_000012.11:g.120590467TA[8]

Select item 149114412119.

rs1491144121 has merged into rs1409042874 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 12:120187902 (GRCh38)
12:120625705 (GRCh37)
Canonical SPDI:: NC_000012.12:120187900:ACA:A,NC_000012.12:120187900:ACA:ACACA
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000107/15 (GnomAD)
-=0.015847/29 (Korea1K)
HGVS:: NC_000012.12:g.120187902_120187903del, NC_000012.12:g.120187902_120187903dup, NC_000012.11:g.120625705_120625706del, NC_000012.11:g.120625705_120625706dup

Select item 149114325820.

rs1491143258 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:120175126 (GRCh38)
12:120612929 (GRCh37)
Canonical SPDI:: NC_000012.12:120175125:CA:
Gene:: GCN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.120175126_120175127del, NC_000012.11:g.120612929_120612930del

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