SNP Links for Gene (Select 7643) - SNP

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Select item 14913130991.

rs1491313099 has merged into rs10626180 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:20108741 (GRCh38)
19:20219550 (GRCh37)
Canonical SPDI:: NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20108731:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF90 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.20108741_20108749del, NC_000019.10:g.20108742_20108749del, NC_000019.10:g.20108743_20108749del, NC_000019.10:g.20108744_20108749del, NC_000019.10:g.20108745_20108749del, NC_000019.10:g.20108746_20108749del, NC_000019.10:g.20108747_20108749del, NC_000019.10:g.20108748_20108749del, NC_000019.10:g.20108749del, NC_000019.10:g.20108749dup, NC_000019.10:g.20108748_20108749dup, NC_000019.10:g.20108747_20108749dup, NC_000019.10:g.20108746_20108749dup, NC_000019.10:g.20108745_20108749dup, NC_000019.10:g.20108744_20108749dup, NC_000019.10:g.20108743_20108749dup, NC_000019.10:g.20108742_20108749dup, NC_000019.10:g.20108741_20108749dup, NC_000019.10:g.20108740_20108749dup, NC_000019.10:g.20108732_20108749dup, NC_000019.9:g.20219550_20219558del, NC_000019.9:g.20219551_20219558del, NC_000019.9:g.20219552_20219558del, NC_000019.9:g.20219553_20219558del, NC_000019.9:g.20219554_20219558del, NC_000019.9:g.20219555_20219558del, NC_000019.9:g.20219556_20219558del, NC_000019.9:g.20219557_20219558del, NC_000019.9:g.20219558del, NC_000019.9:g.20219558dup, NC_000019.9:g.20219557_20219558dup, NC_000019.9:g.20219556_20219558dup, NC_000019.9:g.20219555_20219558dup, NC_000019.9:g.20219554_20219558dup, NC_000019.9:g.20219553_20219558dup, NC_000019.9:g.20219552_20219558dup, NC_000019.9:g.20219551_20219558dup, NC_000019.9:g.20219550_20219558dup, NC_000019.9:g.20219549_20219558dup, NC_000019.9:g.20219541_20219558dup, NW_003571053.2:g.25994_26002del, NW_003571053.2:g.25995_26002del, NW_003571053.2:g.25996_26002del, NW_003571053.2:g.25997_26002del, NW_003571053.2:g.25998_26002del, NW_003571053.2:g.25999_26002del, NW_003571053.2:g.26000_26002del, NW_003571053.2:g.26001_26002del, NW_003571053.2:g.26002del, NW_003571053.2:g.26002dup, NW_003571053.2:g.26001_26002dup, NW_003571053.2:g.26000_26002dup, NW_003571053.2:g.25999_26002dup, NW_003571053.2:g.25998_26002dup, NW_003571053.2:g.25997_26002dup, NW_003571053.2:g.25996_26002dup, NW_003571053.2:g.25995_26002dup, NW_003571053.2:g.25994_26002dup, NW_003571053.2:g.25993_26002dup, NW_003571053.2:g.25985_26002dup

Select item 14912747892.

rs1491274789 has merged into rs782242638 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 19:20084080 (GRCh38)
19:20194889 (GRCh37)
Canonical SPDI:: NC_000019.10:20084068:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:20084068:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:20084068:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:20084068:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:20084068:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:20084068:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTT=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.20084080_20084081del, NC_000019.10:g.20084081del, NC_000019.10:g.20084081dup, NC_000019.10:g.20084079_20084081dup, NC_000019.10:g.20084078_20084081dup, NC_000019.10:g.20084077_20084081dup, NC_000019.9:g.20194889_20194890del, NC_000019.9:g.20194890del, NC_000019.9:g.20194890dup, NC_000019.9:g.20194888_20194890dup, NC_000019.9:g.20194887_20194890dup, NC_000019.9:g.20194886_20194890dup, NW_003571053.2:g.1333_1334del, NW_003571053.2:g.1334del, NW_003571053.2:g.1334dup, NW_003571053.2:g.1332_1334dup, NW_003571053.2:g.1331_1334dup, NW_003571053.2:g.1330_1334dup

Select item 14912696143.

rs1491269614 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:20115417 (GRCh38)
19:20226226 (GRCh37)
Canonical SPDI:: NC_000019.10:20115415:TGT:T
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000026/3 (GnomAD)
HGVS:: NC_000019.10:g.20115417_20115418del, NC_000019.9:g.20226226_20226227del, NW_003571053.2:g.32670_32671del

Select item 14912278944.

rs1491227894 has merged into rs113327735 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 19:20079948 (GRCh38)
19:20190757 (GRCh37)
Canonical SPDI:: NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:20079937:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.20079948_20079952del, NC_000019.10:g.20079949_20079952del, NC_000019.10:g.20079950_20079952del, NC_000019.10:g.20079951_20079952del, NC_000019.10:g.20079952del, NC_000019.10:g.20079952dup, NC_000019.10:g.20079951_20079952dup, NC_000019.10:g.20079950_20079952dup, NC_000019.9:g.20190757_20190761del, NC_000019.9:g.20190758_20190761del, NC_000019.9:g.20190759_20190761del, NC_000019.9:g.20190760_20190761del, NC_000019.9:g.20190761del, NC_000019.9:g.20190761dup, NC_000019.9:g.20190760_20190761dup, NC_000019.9:g.20190759_20190761dup

Select item 14912209125.

rs1491220912 has merged into rs139573879 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:20079129 (GRCh38)
19:20189938 (GRCh37)
Canonical SPDI:: NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:20079115:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.20079129_20079137del, NC_000019.10:g.20079130_20079137del, NC_000019.10:g.20079131_20079137del, NC_000019.10:g.20079133_20079137del, NC_000019.10:g.20079134_20079137del, NC_000019.10:g.20079135_20079137del, NC_000019.10:g.20079136_20079137del, NC_000019.10:g.20079137del, NC_000019.10:g.20079137dup, NC_000019.10:g.20079136_20079137dup, NC_000019.10:g.20079135_20079137dup, NC_000019.10:g.20079134_20079137dup, NC_000019.10:g.20079133_20079137dup, NC_000019.10:g.20079132_20079137dup, NC_000019.10:g.20079131_20079137dup, NC_000019.10:g.20079130_20079137dup, NC_000019.10:g.20079129_20079137dup, NC_000019.10:g.20079117_20079137dup, NC_000019.9:g.20189938_20189946del, NC_000019.9:g.20189939_20189946del, NC_000019.9:g.20189940_20189946del, NC_000019.9:g.20189942_20189946del, NC_000019.9:g.20189943_20189946del, NC_000019.9:g.20189944_20189946del, NC_000019.9:g.20189945_20189946del, NC_000019.9:g.20189946del, NC_000019.9:g.20189946dup, NC_000019.9:g.20189945_20189946dup, NC_000019.9:g.20189944_20189946dup, NC_000019.9:g.20189943_20189946dup, NC_000019.9:g.20189942_20189946dup, NC_000019.9:g.20189941_20189946dup, NC_000019.9:g.20189940_20189946dup, NC_000019.9:g.20189939_20189946dup, NC_000019.9:g.20189938_20189946dup, NC_000019.9:g.20189926_20189946dup

Select item 14912200306.

rs1491220030 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:20079115 (GRCh38)
19:20189924 (GRCh37)
Canonical SPDI:: NC_000019.10:20079114:CA:
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.20079115_20079116del, NC_000019.9:g.20189924_20189925del

Select item 14911954647.

rs1491195464 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:20115416 (GRCh38)
19:20226226 (GRCh37)
Canonical SPDI:: NC_000019.10:20115416:G:GG
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000245/4 (ALFA)
G=0.000438/53 (GnomAD)
HGVS:: NC_000019.10:g.20115417dup, NC_000019.9:g.20226226dup, NW_003571053.2:g.32670dup

Select item 14910862078.

rs1491086207 has merged into rs35771879 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 19:20112247 (GRCh38)
19:20223056 (GRCh37)
Canonical SPDI:: NC_000019.10:20112233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:20112233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:20112233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:20112233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:20112233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:20112233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:20112233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ZNF90 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.20112247_20112249del, NC_000019.10:g.20112248_20112249del, NC_000019.10:g.20112249del, NC_000019.10:g.20112249dup, NC_000019.10:g.20112248_20112249dup, NC_000019.10:g.20112247_20112249dup, NC_000019.10:g.20112246_20112249dup, NC_000019.9:g.20223056_20223058del, NC_000019.9:g.20223057_20223058del, NC_000019.9:g.20223058del, NC_000019.9:g.20223058dup, NC_000019.9:g.20223057_20223058dup, NC_000019.9:g.20223056_20223058dup, NC_000019.9:g.20223055_20223058dup, NW_003571053.2:g.29500_29502del, NW_003571053.2:g.29501_29502del, NW_003571053.2:g.29502del, NW_003571053.2:g.29502dup, NW_003571053.2:g.29501_29502dup, NW_003571053.2:g.29500_29502dup, NW_003571053.2:g.29499_29502dup

Select item 14910084619.

rs1491008461 has merged into rs147763966 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:20076650 (GRCh38)
19:20187459 (GRCh37)
Canonical SPDI:: NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20076641:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF90 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000019.10:g.20076650_20076659del, NC_000019.10:g.20076652_20076659del, NC_000019.10:g.20076653_20076659del, NC_000019.10:g.20076654_20076659del, NC_000019.10:g.20076655_20076659del, NC_000019.10:g.20076656_20076659del, NC_000019.10:g.20076657_20076659del, NC_000019.10:g.20076658_20076659del, NC_000019.10:g.20076659del, NC_000019.10:g.20076659dup, NC_000019.10:g.20076658_20076659dup, NC_000019.10:g.20076657_20076659dup, NC_000019.10:g.20076656_20076659dup, NC_000019.10:g.20076655_20076659dup, NC_000019.10:g.20076654_20076659dup, NC_000019.10:g.20076653_20076659dup, NC_000019.10:g.20076652_20076659dup, NC_000019.10:g.20076647_20076659dup, NC_000019.10:g.20076645_20076659dup, NC_000019.9:g.20187459_20187468del, NC_000019.9:g.20187461_20187468del, NC_000019.9:g.20187462_20187468del, NC_000019.9:g.20187463_20187468del, NC_000019.9:g.20187464_20187468del, NC_000019.9:g.20187465_20187468del, NC_000019.9:g.20187466_20187468del, NC_000019.9:g.20187467_20187468del, NC_000019.9:g.20187468del, NC_000019.9:g.20187468dup, NC_000019.9:g.20187467_20187468dup, NC_000019.9:g.20187466_20187468dup, NC_000019.9:g.20187465_20187468dup, NC_000019.9:g.20187464_20187468dup, NC_000019.9:g.20187463_20187468dup, NC_000019.9:g.20187462_20187468dup, NC_000019.9:g.20187461_20187468dup, NC_000019.9:g.20187456_20187468dup, NC_000019.9:g.20187454_20187468dup

Select item 149099396110.

rs1490993961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:20124775 (GRCh38)
19:20235584 (GRCh37)
Canonical SPDI:: NC_000019.10:20124774:A:C,NC_000019.10:20124774:A:G
Gene:: LOC105372310 (Varview), LOC124904662 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.20124775A>C, NC_000019.10:g.20124775A>G, NC_000019.9:g.20235584A>C, NC_000019.9:g.20235584A>G, NW_003571053.2:g.42028A>C, NW_003571053.2:g.42028A>G, XR_007067164.1:n.13793T>G, XR_007067164.1:n.13793T>C

Select item 149094024111.

rs1490940241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:20101694 (GRCh38)
19:20212503 (GRCh37)
Canonical SPDI:: NC_000019.10:20101693:A:G
Gene:: ZNF90 (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_000019.10:g.20101694A>G, NC_000019.9:g.20212503A>G, NW_003571053.2:g.18947A>G

Select item 149088484112.

rs1490884841 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:20112788 (GRCh38)
19:20223598 (GRCh37)
Canonical SPDI:: NC_000019.10:20112788:TTTTTTTT:TTTTTTTTT
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.000996/14 (ALFA)
T=0.000156/1 (1000Genomes)
T=0.000352/49 (GnomAD)
T=0.00051/135 (TOPMED)
HGVS:: NC_000019.10:g.20112796dup, NC_000019.9:g.20223605dup, NW_003571053.2:g.30049dup

Select item 149086777913.

rs1490867779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:20100967 (GRCh38)
19:20211776 (GRCh37)
Canonical SPDI:: NC_000019.10:20100966:C:G
Gene:: ZNF90 (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_000019.10:g.20100967C>G, NC_000019.9:g.20211776C>G, NW_003571053.2:g.18220C>G

Select item 149082412614.

rs1490824126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:20087674 (GRCh38)
19:20198483 (GRCh37)
Canonical SPDI:: NC_000019.10:20087673:A:G
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.20087674A>G, NC_000019.9:g.20198483A>G, NG_024162.1:g.3T>C, NW_003571053.2:g.4927A>G

Select item 149069883715.

rs1490698837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:20119014 (GRCh38)
19:20229823 (GRCh37)
Canonical SPDI:: NC_000019.10:20119013:A:G
Gene:: ZNF90 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.20119014A>G, NC_000019.9:g.20229823A>G, NW_003571053.2:g.36267A>G, NM_007138.2:c.1460A>G, NM_007138.1:c.1460A>G, XM_047439360.1:c.1232A>G, NP_009069.1:p.Asp487Gly, XP_047295316.1:p.Asp411Gly

Select item 149065658316.

rs1490656583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:20088001 (GRCh38)
19:20198810 (GRCh37)
Canonical SPDI:: NC_000019.10:20088000:T:C
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.20088001T>C, NC_000019.9:g.20198810T>C, NW_003571053.2:g.5254T>C

Select item 149052182617.

rs1490521826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:20108725 (GRCh38)
19:20219534 (GRCh37)
Canonical SPDI:: NC_000019.10:20108724:G:T
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00992/29 (KOREAN)
HGVS:: NC_000019.10:g.20108725G>T, NC_000019.9:g.20219534G>T, NW_003571053.2:g.25978G>T

Select item 149049589318.

rs1490495893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:20107714 (GRCh38)
19:20218523 (GRCh37)
Canonical SPDI:: NC_000019.10:20107713:C:G,NC_000019.10:20107713:C:T
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.20107714C>G, NC_000019.10:g.20107714C>T, NC_000019.9:g.20218523C>G, NC_000019.9:g.20218523C>T, NW_003571053.2:g.24967C>G, NW_003571053.2:g.24967C>T

Select item 149047352719.

rs1490473527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:20095066 (GRCh38)
19:20205875 (GRCh37)
Canonical SPDI:: NC_000019.10:20095065:G:C
Gene:: ZNF90 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.20095066G>C, NC_000019.9:g.20205875G>C, NW_003571053.2:g.12319G>C

Select item 149046459920.

rs1490464599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:20076633 (GRCh38)
19:20187442 (GRCh37)
Canonical SPDI:: NC_000019.10:20076632:C:T
Gene:: ZNF90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00018/3 (TOMMO)
T=0.00055/1 (Korea1K)
T=0.02088/61 (KOREAN)
HGVS:: NC_000019.10:g.20076633C>T, NC_000019.9:g.20187442C>T

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