SNP Links for Gene (Select 843) - SNP

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Select item 14915170931.

rs1491517093 has merged into rs756336283 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201181264 (GRCh38)
2:202045987 (GRCh37)
Canonical SPDI:: NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201181248:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASP10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.201181264_201181268del, NC_000002.12:g.201181265_201181268del, NC_000002.12:g.201181266_201181268del, NC_000002.12:g.201181267_201181268del, NC_000002.12:g.201181268del, NC_000002.12:g.201181268dup, NC_000002.12:g.201181267_201181268dup, NC_000002.12:g.201181266_201181268dup, NC_000002.12:g.201181265_201181268dup, NC_000002.12:g.201181264_201181268dup, NC_000002.12:g.201181263_201181268dup, NC_000002.11:g.202045987_202045991del, NC_000002.11:g.202045988_202045991del, NC_000002.11:g.202045989_202045991del, NC_000002.11:g.202045990_202045991del, NC_000002.11:g.202045991del, NC_000002.11:g.202045991dup, NC_000002.11:g.202045990_202045991dup, NC_000002.11:g.202045989_202045991dup, NC_000002.11:g.202045988_202045991dup, NC_000002.11:g.202045987_202045991dup, NC_000002.11:g.202045986_202045991dup, NG_007265.1:g.3133_3137del, NG_007265.1:g.3134_3137del, NG_007265.1:g.3135_3137del, NG_007265.1:g.3136_3137del, NG_007265.1:g.3137del, NG_007265.1:g.3137dup, NG_007265.1:g.3136_3137dup, NG_007265.1:g.3135_3137dup, NG_007265.1:g.3134_3137dup, NG_007265.1:g.3133_3137dup, NG_007265.1:g.3132_3137dup

Select item 14914111182.

rs1491411118 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTG [Show Flanks]
Chromosome:: 2:201194088 (GRCh38)
2:202058812 (GRCh37)
Canonical SPDI:: NC_000002.12:201194088:GTGTG:GTGTGGGTGTG
Gene:: CASP10 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGGGTGTG=0.00008/1 (ALFA)
GTGTGG=0.00102/23 (GnomAD)
HGVS:: NC_000002.12:g.201194089_201194093GT[2]GGGTGTG[1], NC_000002.11:g.202058812_202058816GT[2]GGGTGTG[1], NG_007265.1:g.15958_15962GT[2]GGGTGTG[1]

Select item 14913738313.

rs1491373831 has merged into rs377760707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201209051 (GRCh38)
2:202073774 (GRCh37)
Canonical SPDI:: NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201209041:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.31609/1583 (1000Genomes)
T=0.325/13 (GENOME_DK)
HGVS:: NC_000002.12:g.201209051_201209057del, NC_000002.12:g.201209053_201209057del, NC_000002.12:g.201209054_201209057del, NC_000002.12:g.201209055_201209057del, NC_000002.12:g.201209056_201209057del, NC_000002.12:g.201209057del, NC_000002.12:g.201209057dup, NC_000002.12:g.201209056_201209057dup, NC_000002.12:g.201209055_201209057dup, NC_000002.12:g.201209054_201209057dup, NC_000002.12:g.201209052_201209057dup, NC_000002.12:g.201209047_201209057dup, NC_000002.12:g.201209045_201209057dup, NC_000002.12:g.201209043_201209057dup, NC_000002.12:g.201209057_201209058insTTTTTTTTTTTTTTTTT, NC_000002.12:g.201209057_201209058insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.201209057_201209058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.202073774_202073780del, NC_000002.11:g.202073776_202073780del, NC_000002.11:g.202073777_202073780del, NC_000002.11:g.202073778_202073780del, NC_000002.11:g.202073779_202073780del, NC_000002.11:g.202073780del, NC_000002.11:g.202073780dup, NC_000002.11:g.202073779_202073780dup, NC_000002.11:g.202073778_202073780dup, NC_000002.11:g.202073777_202073780dup, NC_000002.11:g.202073775_202073780dup, NC_000002.11:g.202073770_202073780dup, NC_000002.11:g.202073768_202073780dup, NC_000002.11:g.202073766_202073780dup, NC_000002.11:g.202073780_202073781insTTTTTTTTTTTTTTTTT, NC_000002.11:g.202073780_202073781insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.202073780_202073781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007265.1:g.30920_30926del, NG_007265.1:g.30922_30926del, NG_007265.1:g.30923_30926del, NG_007265.1:g.30924_30926del, NG_007265.1:g.30925_30926del, NG_007265.1:g.30926del, NG_007265.1:g.30926dup, NG_007265.1:g.30925_30926dup, NG_007265.1:g.30924_30926dup, NG_007265.1:g.30923_30926dup, NG_007265.1:g.30921_30926dup, NG_007265.1:g.30916_30926dup, NG_007265.1:g.30914_30926dup, NG_007265.1:g.30912_30926dup, NG_007265.1:g.30926_30927insTTTTTTTTTTTTTTTTT, NG_007265.1:g.30926_30927insTTTTTTTTTTTTTTTTTTT, NG_007265.1:g.30926_30927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913562844.

rs1491356284 has merged into rs34064194 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201203320 (GRCh38)
2:202068043 (GRCh37)
Canonical SPDI:: NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201203308:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
-=0.404/2023 (1000Genomes)
HGVS:: NC_000002.12:g.201203320_201203324del, NC_000002.12:g.201203321_201203324del, NC_000002.12:g.201203322_201203324del, NC_000002.12:g.201203323_201203324del, NC_000002.12:g.201203324del, NC_000002.12:g.201203324dup, NC_000002.12:g.201203323_201203324dup, NC_000002.12:g.201203316_201203324dup, NC_000002.11:g.202068043_202068047del, NC_000002.11:g.202068044_202068047del, NC_000002.11:g.202068045_202068047del, NC_000002.11:g.202068046_202068047del, NC_000002.11:g.202068047del, NC_000002.11:g.202068047dup, NC_000002.11:g.202068046_202068047dup, NC_000002.11:g.202068039_202068047dup, NG_007265.1:g.25189_25193del, NG_007265.1:g.25190_25193del, NG_007265.1:g.25191_25193del, NG_007265.1:g.25192_25193del, NG_007265.1:g.25193del, NG_007265.1:g.25193dup, NG_007265.1:g.25192_25193dup, NG_007265.1:g.25185_25193dup

Select item 14913115395.

rs1491311539 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:201203309 (GRCh38)
2:202068033 (GRCh37)
Canonical SPDI:: NC_000002.12:201203309::C
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000028/1 (GnomAD)
HGVS:: NC_000002.12:g.201203309_201203310insC, NC_000002.11:g.202068032_202068033insC, NG_007265.1:g.25178_25179insC

Select item 14913005636.

rs1491300563 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:201227088 (GRCh38)
2:202091811 (GRCh37)
Canonical SPDI:: NC_000002.12:201227087:AG:
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.201227088_201227089del, NC_000002.11:g.202091811_202091812del, NG_007265.1:g.48957_48958del

Select item 14911921237.

rs1491192123 has merged into rs1236118772 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 2:201227089 (GRCh38)
2:202091812 (GRCh37)
Canonical SPDI:: NC_000002.12:201227088:GGGGGG:GGGGG,NC_000002.12:201227088:GGGGGG:GGGGGGG
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.201227094del, NC_000002.12:g.201227094dup, NC_000002.11:g.202091817del, NC_000002.11:g.202091817dup, NG_007265.1:g.48963del, NG_007265.1:g.48963dup

Select item 14911101778.

rs1491110177 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:201181249 (GRCh38)
2:202045973 (GRCh37)
Canonical SPDI:: NC_000002.12:201181249::G
Gene:: CASP10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.201181249_201181250insG, NC_000002.11:g.202045972_202045973insG, NG_007265.1:g.3118_3119insG

Select item 14910504809.

rs1491050480 has merged into rs11354026 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 2:201226700 (GRCh38)
2:202091423 (GRCh37)
Canonical SPDI:: NC_000002.12:201226690:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:201226690:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:201226690:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:201226690:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: CASP10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.0006/4 (ALFA)
-=0.2031/710 (1000Genomes)
-=0.4808/1853 (ALSPAC)
-=0.4922/1825 (TWINSUK)
HGVS:: NC_000002.12:g.201226700_201226701del, NC_000002.12:g.201226701del, NC_000002.12:g.201226701dup, NC_000002.12:g.201226700_201226701dup, NC_000002.11:g.202091423_202091424del, NC_000002.11:g.202091424del, NC_000002.11:g.202091424dup, NC_000002.11:g.202091423_202091424dup, NG_007265.1:g.48569_48570del, NG_007265.1:g.48570del, NG_007265.1:g.48570dup, NG_007265.1:g.48569_48570dup

Select item 149104384710.

rs1491043847 has merged into rs35121141 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201205240 (GRCh38)
2:202069963 (GRCh37)
Canonical SPDI:: NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.201205240_201205242del, NC_000002.12:g.201205241_201205242del, NC_000002.12:g.201205242del, NC_000002.12:g.201205242dup, NC_000002.12:g.201205241_201205242dup, NC_000002.12:g.201205240_201205242dup, NC_000002.12:g.201205239_201205242dup, NC_000002.12:g.201205238_201205242dup, NC_000002.12:g.201205237_201205242dup, NC_000002.12:g.201205232_201205242dup, NC_000002.12:g.201205242_201205243insTTTTTTTTTTTTTTTT, NC_000002.11:g.202069963_202069965del, NC_000002.11:g.202069964_202069965del, NC_000002.11:g.202069965del, NC_000002.11:g.202069965dup, NC_000002.11:g.202069964_202069965dup, NC_000002.11:g.202069963_202069965dup, NC_000002.11:g.202069962_202069965dup, NC_000002.11:g.202069961_202069965dup, NC_000002.11:g.202069960_202069965dup, NC_000002.11:g.202069955_202069965dup, NC_000002.11:g.202069965_202069966insTTTTTTTTTTTTTTTT, NG_007265.1:g.27109_27111del, NG_007265.1:g.27110_27111del, NG_007265.1:g.27111del, NG_007265.1:g.27111dup, NG_007265.1:g.27110_27111dup, NG_007265.1:g.27109_27111dup, NG_007265.1:g.27108_27111dup, NG_007265.1:g.27107_27111dup, NG_007265.1:g.27106_27111dup, NG_007265.1:g.27101_27111dup, NG_007265.1:g.27111_27112insTTTTTTTTTTTTTTTT

Select item 149090400411.

rs1490904004 has merged into rs761866954 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201199581 (GRCh38)
2:202064304 (GRCh37)
Canonical SPDI:: NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201199569:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.201199581_201199592del, NC_000002.12:g.201199582_201199592del, NC_000002.12:g.201199583_201199592del, NC_000002.12:g.201199584_201199592del, NC_000002.12:g.201199585_201199592del, NC_000002.12:g.201199586_201199592del, NC_000002.12:g.201199587_201199592del, NC_000002.12:g.201199588_201199592del, NC_000002.12:g.201199589_201199592del, NC_000002.12:g.201199590_201199592del, NC_000002.12:g.201199591_201199592del, NC_000002.12:g.201199592del, NC_000002.12:g.201199592dup, NC_000002.12:g.201199591_201199592dup, NC_000002.12:g.201199590_201199592dup, NC_000002.12:g.201199589_201199592dup, NC_000002.12:g.201199588_201199592dup, NC_000002.12:g.201199587_201199592dup, NC_000002.12:g.201199586_201199592dup, NC_000002.12:g.201199585_201199592dup, NC_000002.12:g.201199584_201199592dup, NC_000002.12:g.201199583_201199592dup, NC_000002.11:g.202064304_202064315del, NC_000002.11:g.202064305_202064315del, NC_000002.11:g.202064306_202064315del, NC_000002.11:g.202064307_202064315del, NC_000002.11:g.202064308_202064315del, NC_000002.11:g.202064309_202064315del, NC_000002.11:g.202064310_202064315del, NC_000002.11:g.202064311_202064315del, NC_000002.11:g.202064312_202064315del, NC_000002.11:g.202064313_202064315del, NC_000002.11:g.202064314_202064315del, NC_000002.11:g.202064315del, NC_000002.11:g.202064315dup, NC_000002.11:g.202064314_202064315dup, NC_000002.11:g.202064313_202064315dup, NC_000002.11:g.202064312_202064315dup, NC_000002.11:g.202064311_202064315dup, NC_000002.11:g.202064310_202064315dup, NC_000002.11:g.202064309_202064315dup, NC_000002.11:g.202064308_202064315dup, NC_000002.11:g.202064307_202064315dup, NC_000002.11:g.202064306_202064315dup, NG_007265.1:g.21450_21461del, NG_007265.1:g.21451_21461del, NG_007265.1:g.21452_21461del, NG_007265.1:g.21453_21461del, NG_007265.1:g.21454_21461del, NG_007265.1:g.21455_21461del, NG_007265.1:g.21456_21461del, NG_007265.1:g.21457_21461del, NG_007265.1:g.21458_21461del, NG_007265.1:g.21459_21461del, NG_007265.1:g.21460_21461del, NG_007265.1:g.21461del, NG_007265.1:g.21461dup, NG_007265.1:g.21460_21461dup, NG_007265.1:g.21459_21461dup, NG_007265.1:g.21458_21461dup, NG_007265.1:g.21457_21461dup, NG_007265.1:g.21456_21461dup, NG_007265.1:g.21455_21461dup, NG_007265.1:g.21454_21461dup, NG_007265.1:g.21453_21461dup, NG_007265.1:g.21452_21461dup

Select item 149088929912.

rs1490889299 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAT [Show Flanks]
Chromosome:: 2:201214882 (GRCh38)
2:202079606 (GRCh37)
Canonical SPDI:: NC_000002.12:201214882:TGAT:TGATTGAT
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGATTGAT=0./0 (ALFA)
TGAT=0.000014/2 (GnomAD)
TGAT=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.201214883_201214886dup, NC_000002.11:g.202079606_202079609dup, NG_007265.1:g.36752_36755dup, NG_051930.1:g.165_168dup

Select item 149071814313.

rs1490718143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201190564 (GRCh38)
2:202055287 (GRCh37)
Canonical SPDI:: NC_000002.12:201190563:A:G
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201190564A>G, NC_000002.11:g.202055287A>G, NG_007265.1:g.12433A>G

Select item 149061921114.

rs1490619211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201215333 (GRCh38)
2:202080056 (GRCh37)
Canonical SPDI:: NC_000002.12:201215332:A:G
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201215333A>G, NC_000002.11:g.202080056A>G, NG_007265.1:g.37202A>G

Select item 149048478715.

rs1490484787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:201207448 (GRCh38)
2:202072171 (GRCh37)
Canonical SPDI:: NC_000002.12:201207447:C:G
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201207448C>G, NC_000002.11:g.202072171C>G, NG_007265.1:g.29317C>G

Select item 149046659316.

rs1490466593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201191047 (GRCh38)
2:202055770 (GRCh37)
Canonical SPDI:: NC_000002.12:201191046:A:G
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.201191047A>G, NC_000002.11:g.202055770A>G, NG_007265.1:g.12916A>G

Select item 149043861617.

rs1490438616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:201206310 (GRCh38)
2:202071033 (GRCh37)
Canonical SPDI:: NC_000002.12:201206309:G:A,NC_000002.12:201206309:G:C
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
A=0.000212/4 (TOMMO)
HGVS:: NC_000002.12:g.201206310G>A, NC_000002.12:g.201206310G>C, NC_000002.11:g.202071033G>A, NC_000002.11:g.202071033G>C, NG_007265.1:g.28179G>A, NG_007265.1:g.28179G>C

Select item 149041609318.

rs1490416093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201224128 (GRCh38)
2:202088851 (GRCh37)
Canonical SPDI:: NC_000002.12:201224127:C:T
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.201224128C>T, NC_000002.11:g.202088851C>T, NG_007265.1:g.45997C>T

Select item 149038448119.

rs1490384481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:201223040 (GRCh38)
2:202087763 (GRCh37)
Canonical SPDI:: NC_000002.12:201223039:T:G
Gene:: CASP10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.201223040T>G, NC_000002.11:g.202087763T>G, NG_007265.1:g.44909T>G

Select item 149037696220.

rs1490376962 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

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