SNP Links for Gene (Select 3640) - SNP

Links from Gene

Items: 1 to 20 of 1897

<< First< Prev

Page of 95

Next >Last >>

Select item 14915032851.

rs1491503285 has merged into rs58956953 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:17817807 (GRCh38)
19:17928616 (GRCh37)
Canonical SPDI:: NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.17817807_17817818del, NC_000019.10:g.17817808_17817818del, NC_000019.10:g.17817809_17817818del, NC_000019.10:g.17817810_17817818del, NC_000019.10:g.17817811_17817818del, NC_000019.10:g.17817812_17817818del, NC_000019.10:g.17817813_17817818del, NC_000019.10:g.17817814_17817818del, NC_000019.10:g.17817815_17817818del, NC_000019.10:g.17817816_17817818del, NC_000019.10:g.17817817_17817818del, NC_000019.10:g.17817818del, NC_000019.10:g.17817818dup, NC_000019.10:g.17817817_17817818dup, NC_000019.10:g.17817816_17817818dup, NC_000019.10:g.17817815_17817818dup, NC_000019.10:g.17817814_17817818dup, NC_000019.10:g.17817813_17817818dup, NC_000019.10:g.17817812_17817818dup, NC_000019.10:g.17817811_17817818dup, NC_000019.10:g.17817810_17817818dup, NC_000019.10:g.17817809_17817818dup, NC_000019.10:g.17817808_17817818dup, NC_000019.10:g.17817807_17817818dup, NC_000019.10:g.17817806_17817818dup, NC_000019.10:g.17817805_17817818dup, NC_000019.10:g.17817804_17817818dup, NC_000019.9:g.17928616_17928627del, NC_000019.9:g.17928617_17928627del, NC_000019.9:g.17928618_17928627del, NC_000019.9:g.17928619_17928627del, NC_000019.9:g.17928620_17928627del, NC_000019.9:g.17928621_17928627del, NC_000019.9:g.17928622_17928627del, NC_000019.9:g.17928623_17928627del, NC_000019.9:g.17928624_17928627del, NC_000019.9:g.17928625_17928627del, NC_000019.9:g.17928626_17928627del, NC_000019.9:g.17928627del, NC_000019.9:g.17928627dup, NC_000019.9:g.17928626_17928627dup, NC_000019.9:g.17928625_17928627dup, NC_000019.9:g.17928624_17928627dup, NC_000019.9:g.17928623_17928627dup, NC_000019.9:g.17928622_17928627dup, NC_000019.9:g.17928621_17928627dup, NC_000019.9:g.17928620_17928627dup, NC_000019.9:g.17928619_17928627dup, NC_000019.9:g.17928618_17928627dup, NC_000019.9:g.17928617_17928627dup, NC_000019.9:g.17928616_17928627dup, NC_000019.9:g.17928615_17928627dup, NC_000019.9:g.17928614_17928627dup, NC_000019.9:g.17928613_17928627dup, NG_012092.1:g.8705_8716del, NG_012092.1:g.8706_8716del, NG_012092.1:g.8707_8716del, NG_012092.1:g.8708_8716del, NG_012092.1:g.8709_8716del, NG_012092.1:g.8710_8716del, NG_012092.1:g.8711_8716del, NG_012092.1:g.8712_8716del, NG_012092.1:g.8713_8716del, NG_012092.1:g.8714_8716del, NG_012092.1:g.8715_8716del, NG_012092.1:g.8716del, NG_012092.1:g.8716dup, NG_012092.1:g.8715_8716dup, NG_012092.1:g.8714_8716dup, NG_012092.1:g.8713_8716dup, NG_012092.1:g.8712_8716dup, NG_012092.1:g.8711_8716dup, NG_012092.1:g.8710_8716dup, NG_012092.1:g.8709_8716dup, NG_012092.1:g.8708_8716dup, NG_012092.1:g.8707_8716dup, NG_012092.1:g.8706_8716dup, NG_012092.1:g.8705_8716dup, NG_012092.1:g.8704_8716dup, NG_012092.1:g.8703_8716dup, NG_012092.1:g.8702_8716dup

Select item 14914620932.

rs1491462093 has merged into rs377762807 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 19:17821907 (GRCh38)
19:17932716 (GRCh37)
Canonical SPDI:: NC_000019.10:17821902:TTTTTT:TTTT,NC_000019.10:17821902:TTTTTT:TTTTT,NC_000019.10:17821902:TTTTTT:TTTTTTT,NC_000019.10:17821902:TTTTTT:TTTTTTTT,NC_000019.10:17821902:TTTTTT:TTTTTTTTT,NC_000019.10:17821902:TTTTTT:TTTTTTTTTTTT
Gene:: INSL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.06388/29 (NorthernSweden)
T=0.1/4 (GENOME_DK)
T=0.27442/3984 (TOMMO)
HGVS:: NC_000019.10:g.17821907_17821908del, NC_000019.10:g.17821908del, NC_000019.10:g.17821908dup, NC_000019.10:g.17821907_17821908dup, NC_000019.10:g.17821906_17821908dup, NC_000019.10:g.17821903_17821908dup, NC_000019.9:g.17932716_17932717del, NC_000019.9:g.17932717del, NC_000019.9:g.17932717dup, NC_000019.9:g.17932716_17932717dup, NC_000019.9:g.17932715_17932717dup, NC_000019.9:g.17932712_17932717dup, NG_012092.1:g.4608_4609del, NG_012092.1:g.4609del, NG_012092.1:g.4609dup, NG_012092.1:g.4608_4609dup, NG_012092.1:g.4607_4609dup, NG_012092.1:g.4604_4609dup

Select item 14914449313.

rs1491444931 has merged into rs58956953 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:17817807 (GRCh38)
19:17928616 (GRCh37)
Canonical SPDI:: NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17817795:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.17817807_17817818del, NC_000019.10:g.17817808_17817818del, NC_000019.10:g.17817809_17817818del, NC_000019.10:g.17817810_17817818del, NC_000019.10:g.17817811_17817818del, NC_000019.10:g.17817812_17817818del, NC_000019.10:g.17817813_17817818del, NC_000019.10:g.17817814_17817818del, NC_000019.10:g.17817815_17817818del, NC_000019.10:g.17817816_17817818del, NC_000019.10:g.17817817_17817818del, NC_000019.10:g.17817818del, NC_000019.10:g.17817818dup, NC_000019.10:g.17817817_17817818dup, NC_000019.10:g.17817816_17817818dup, NC_000019.10:g.17817815_17817818dup, NC_000019.10:g.17817814_17817818dup, NC_000019.10:g.17817813_17817818dup, NC_000019.10:g.17817812_17817818dup, NC_000019.10:g.17817811_17817818dup, NC_000019.10:g.17817810_17817818dup, NC_000019.10:g.17817809_17817818dup, NC_000019.10:g.17817808_17817818dup, NC_000019.10:g.17817807_17817818dup, NC_000019.10:g.17817806_17817818dup, NC_000019.10:g.17817805_17817818dup, NC_000019.10:g.17817804_17817818dup, NC_000019.9:g.17928616_17928627del, NC_000019.9:g.17928617_17928627del, NC_000019.9:g.17928618_17928627del, NC_000019.9:g.17928619_17928627del, NC_000019.9:g.17928620_17928627del, NC_000019.9:g.17928621_17928627del, NC_000019.9:g.17928622_17928627del, NC_000019.9:g.17928623_17928627del, NC_000019.9:g.17928624_17928627del, NC_000019.9:g.17928625_17928627del, NC_000019.9:g.17928626_17928627del, NC_000019.9:g.17928627del, NC_000019.9:g.17928627dup, NC_000019.9:g.17928626_17928627dup, NC_000019.9:g.17928625_17928627dup, NC_000019.9:g.17928624_17928627dup, NC_000019.9:g.17928623_17928627dup, NC_000019.9:g.17928622_17928627dup, NC_000019.9:g.17928621_17928627dup, NC_000019.9:g.17928620_17928627dup, NC_000019.9:g.17928619_17928627dup, NC_000019.9:g.17928618_17928627dup, NC_000019.9:g.17928617_17928627dup, NC_000019.9:g.17928616_17928627dup, NC_000019.9:g.17928615_17928627dup, NC_000019.9:g.17928614_17928627dup, NC_000019.9:g.17928613_17928627dup, NG_012092.1:g.8705_8716del, NG_012092.1:g.8706_8716del, NG_012092.1:g.8707_8716del, NG_012092.1:g.8708_8716del, NG_012092.1:g.8709_8716del, NG_012092.1:g.8710_8716del, NG_012092.1:g.8711_8716del, NG_012092.1:g.8712_8716del, NG_012092.1:g.8713_8716del, NG_012092.1:g.8714_8716del, NG_012092.1:g.8715_8716del, NG_012092.1:g.8716del, NG_012092.1:g.8716dup, NG_012092.1:g.8715_8716dup, NG_012092.1:g.8714_8716dup, NG_012092.1:g.8713_8716dup, NG_012092.1:g.8712_8716dup, NG_012092.1:g.8711_8716dup, NG_012092.1:g.8710_8716dup, NG_012092.1:g.8709_8716dup, NG_012092.1:g.8708_8716dup, NG_012092.1:g.8707_8716dup, NG_012092.1:g.8706_8716dup, NG_012092.1:g.8705_8716dup, NG_012092.1:g.8704_8716dup, NG_012092.1:g.8703_8716dup, NG_012092.1:g.8702_8716dup

Select item 14913623414.

rs1491362341 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:17817795 (GRCh38)
19:17928604 (GRCh37)
Canonical SPDI:: NC_000019.10:17817794:CA:
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.17817795_17817796del, NC_000019.9:g.17928604_17928605del, NG_012092.1:g.8716_8717del

Select item 14913293995.

rs1491329399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:17821902 (GRCh38)
19:17932711 (GRCh37)
Canonical SPDI:: NC_000019.10:17821900:TAT:T
Gene:: INSL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00013/10 (GnomAD)
-=0.00114/14 (TOMMO)
-=0.00126/2 (Korea1K)
HGVS:: NC_000019.10:g.17821902_17821903del, NC_000019.9:g.17932711_17932712del, NG_012092.1:g.4610_4611del

Select item 14911861006.

rs1491186100 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAA [Show Flanks]
Chromosome:: 19:17817796 (GRCh38)
19:17928606 (GRCh37)
Canonical SPDI:: NC_000019.10:17817796:AAAAAA:AAAAAAGAAAAAA
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAGAAAAAA=0./0 (ALFA)
AAAAAAG=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17817797_17817802A[6]GAAAAAA[1], NC_000019.9:g.17928606_17928611A[6]GAAAAAA[1], NG_012092.1:g.8710_8715T[6]CTTTTTT[1]

Select item 14910445617.

rs1491044561 has merged into rs34516252 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:17816192 (GRCh38)
19:17927001 (GRCh37)
Canonical SPDI:: NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17816181:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INSL3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.17816192_17816202del, NC_000019.10:g.17816193_17816202del, NC_000019.10:g.17816194_17816202del, NC_000019.10:g.17816195_17816202del, NC_000019.10:g.17816196_17816202del, NC_000019.10:g.17816198_17816202del, NC_000019.10:g.17816199_17816202del, NC_000019.10:g.17816200_17816202del, NC_000019.10:g.17816201_17816202del, NC_000019.10:g.17816202del, NC_000019.10:g.17816202dup, NC_000019.10:g.17816201_17816202dup, NC_000019.10:g.17816200_17816202dup, NC_000019.10:g.17816198_17816202dup, NC_000019.10:g.17816192_17816202dup, NC_000019.9:g.17927001_17927011del, NC_000019.9:g.17927002_17927011del, NC_000019.9:g.17927003_17927011del, NC_000019.9:g.17927004_17927011del, NC_000019.9:g.17927005_17927011del, NC_000019.9:g.17927007_17927011del, NC_000019.9:g.17927008_17927011del, NC_000019.9:g.17927009_17927011del, NC_000019.9:g.17927010_17927011del, NC_000019.9:g.17927011del, NC_000019.9:g.17927011dup, NC_000019.9:g.17927010_17927011dup, NC_000019.9:g.17927009_17927011dup, NC_000019.9:g.17927007_17927011dup, NC_000019.9:g.17927001_17927011dup, NG_012092.1:g.10320_10330del, NG_012092.1:g.10321_10330del, NG_012092.1:g.10322_10330del, NG_012092.1:g.10323_10330del, NG_012092.1:g.10324_10330del, NG_012092.1:g.10326_10330del, NG_012092.1:g.10327_10330del, NG_012092.1:g.10328_10330del, NG_012092.1:g.10329_10330del, NG_012092.1:g.10330del, NG_012092.1:g.10330dup, NG_012092.1:g.10329_10330dup, NG_012092.1:g.10328_10330dup, NG_012092.1:g.10326_10330dup, NG_012092.1:g.10320_10330dup

Select item 14909462748.

rs1490946274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17817118 (GRCh38)
19:17927927 (GRCh37)
Canonical SPDI:: NC_000019.10:17817117:C:T
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17817118C>T, NC_000019.9:g.17927927C>T, NG_012092.1:g.9394G>A

Select item 14909380079.

rs1490938007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:17823061 (GRCh38)
19:17933870 (GRCh37)
Canonical SPDI:: NC_000019.10:17823060:C:G,NC_000019.10:17823060:C:T
Gene:: INSL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000042/11 (TOPMED)
G=0.000119/2 (TOMMO)
HGVS:: NC_000019.10:g.17823061C>G, NC_000019.10:g.17823061C>T, NC_000019.9:g.17933870C>G, NC_000019.9:g.17933870C>T, NG_012092.1:g.3451G>C, NG_012092.1:g.3451G>A

Select item 148985031210.

rs1489850312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17818279 (GRCh38)
19:17929088 (GRCh37)
Canonical SPDI:: NC_000019.10:17818278:G:A
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.17818279G>A, NC_000019.9:g.17929088G>A, NG_012092.1:g.8233C>T

Select item 148951954611.

rs1489519546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17821386 (GRCh38)
19:17932195 (GRCh37)
Canonical SPDI:: NC_000019.10:17821385:C:T
Gene:: INSL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.17821386C>T, NC_000019.9:g.17932195C>T, NG_012092.1:g.5126G>A, NM_005543.4:c.121G>A, NM_005543.3:c.121G>A, NM_001265587.2:c.121G>A, NM_001265587.1:c.121G>A, NP_005534.2:p.Ala41Thr, NP_001252516.1:p.Ala41Thr

Select item 148919044812.

rs1489190448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:17818874 (GRCh38)
19:17929683 (GRCh37)
Canonical SPDI:: NC_000019.10:17818873:A:C
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17818874A>C, NC_000019.9:g.17929683A>C, NG_012092.1:g.7638T>G

Select item 148884729913.

rs1488847299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:17818712 (GRCh38)
19:17929521 (GRCh37)
Canonical SPDI:: NC_000019.10:17818711:G:T
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17818712G>T, NC_000019.9:g.17929521G>T, NG_012092.1:g.7800C>A

Select item 148876662914.

rs1488766629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:17819452 (GRCh38)
19:17930261 (GRCh37)
Canonical SPDI:: NC_000019.10:17819451:A:T
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.17819452A>T, NC_000019.9:g.17930261A>T, NG_012092.1:g.7060T>A

Select item 148834458015.

rs1488344580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17819743 (GRCh38)
19:17930552 (GRCh37)
Canonical SPDI:: NC_000019.10:17819742:G:A
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17819743G>A, NC_000019.9:g.17930552G>A, NG_012092.1:g.6769C>T

Select item 148830181516.

rs1488301815 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGGGT>- [Show Flanks]
Chromosome:: 19:17820257 (GRCh38)
19:17931066 (GRCh37)
Canonical SPDI:: NC_000019.10:17820253:GGTTTGGGT:GGT
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.17820257_17820262del, NC_000019.9:g.17931066_17931071del, NG_012092.1:g.6253_6258del

Select item 148827678617.

rs1488276786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:17819631 (GRCh38)
19:17930440 (GRCh37)
Canonical SPDI:: NC_000019.10:17819630:G:C
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.17819631G>C, NC_000019.9:g.17930440G>C, NG_012092.1:g.6881C>G

Select item 148789572418.

rs1487895724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17823562 (GRCh38)
19:17934371 (GRCh37)
Canonical SPDI:: NC_000019.10:17823561:C:T
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.17823562C>T, NC_000019.9:g.17934371C>T, NG_012092.1:g.2950G>A

Select item 148769194919.

rs1487691949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:17820589 (GRCh38)
19:17931398 (GRCh37)
Canonical SPDI:: NC_000019.10:17820588:T:C,NC_000019.10:17820588:T:G
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.17820589T>C, NC_000019.10:g.17820589T>G, NC_000019.9:g.17931398T>C, NC_000019.9:g.17931398T>G, NG_012092.1:g.5923A>G, NG_012092.1:g.5923A>C

Select item 148721022520.

rs1487210225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17817810 (GRCh38)
19:17928619 (GRCh37)
Canonical SPDI:: NC_000019.10:17817809:A:G
Gene:: INSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000019.10:g.17817810A>G, NC_000019.9:g.17928619A>G, NG_012092.1:g.8702T>C

<< First< Prev

Page of 95

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1897

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity