SNP Links for Gene (Select 2842) - SNP

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Select item 14914999681.

rs1491499968 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:12674209 (GRCh38)
12:12827143 (GRCh37)
Canonical SPDI:: NC_000012.12:12674208:CA:
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.12674209_12674210del, NC_000012.11:g.12827143_12827144del

Select item 14914569552.

rs1491456955 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:12679428 (GRCh38)
12:12832362 (GRCh37)
Canonical SPDI:: NC_000012.12:12679427:CA:
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.03964/147 (TWINSUK)
-=0.04177/161 (ALSPAC)
HGVS:: NC_000012.12:g.12679428_12679429del, NC_000012.11:g.12832362_12832363del

Select item 14913811443.

rs1491381144 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:12689124 (GRCh38)
12:12842058 (GRCh37)
Canonical SPDI:: NC_000012.12:12689123:AA:
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.12689124_12689125del, NC_000012.11:g.12842058_12842059del

Select item 14913789674.

rs1491378967 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:12667695 (GRCh38)
12:12820630 (GRCh37)
Canonical SPDI:: NC_000012.12:12667695:G:GG
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00006/1 (ALFA)
HGVS:: NC_000012.12:g.12667696dup, NC_000012.11:g.12820630dup

Select item 14913568895.

rs1491356889 has merged into rs58993117 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:12713067 (GRCh38)
12:12866001 (GRCh37)
Canonical SPDI:: NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12713057:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GPR19 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTT=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.12713067_12713080del, NC_000012.12:g.12713069_12713080del, NC_000012.12:g.12713070_12713080del, NC_000012.12:g.12713071_12713080del, NC_000012.12:g.12713072_12713080del, NC_000012.12:g.12713073_12713080del, NC_000012.12:g.12713074_12713080del, NC_000012.12:g.12713076_12713080del, NC_000012.12:g.12713077_12713080del, NC_000012.12:g.12713078_12713080del, NC_000012.12:g.12713079_12713080del, NC_000012.12:g.12713080del, NC_000012.12:g.12713080dup, NC_000012.12:g.12713079_12713080dup, NC_000012.12:g.12713078_12713080dup, NC_000012.12:g.12713077_12713080dup, NC_000012.12:g.12713076_12713080dup, NC_000012.12:g.12713075_12713080dup, NC_000012.12:g.12713074_12713080dup, NC_000012.12:g.12713073_12713080dup, NC_000012.12:g.12713072_12713080dup, NC_000012.12:g.12713064_12713080dup, NC_000012.11:g.12866001_12866014del, NC_000012.11:g.12866003_12866014del, NC_000012.11:g.12866004_12866014del, NC_000012.11:g.12866005_12866014del, NC_000012.11:g.12866006_12866014del, NC_000012.11:g.12866007_12866014del, NC_000012.11:g.12866008_12866014del, NC_000012.11:g.12866010_12866014del, NC_000012.11:g.12866011_12866014del, NC_000012.11:g.12866012_12866014del, NC_000012.11:g.12866013_12866014del, NC_000012.11:g.12866014del, NC_000012.11:g.12866014dup, NC_000012.11:g.12866013_12866014dup, NC_000012.11:g.12866012_12866014dup, NC_000012.11:g.12866011_12866014dup, NC_000012.11:g.12866010_12866014dup, NC_000012.11:g.12866009_12866014dup, NC_000012.11:g.12866008_12866014dup, NC_000012.11:g.12866007_12866014dup, NC_000012.11:g.12866006_12866014dup, NC_000012.11:g.12865998_12866014dup, NG_016341.1:g.700_713del, NG_016341.1:g.702_713del, NG_016341.1:g.703_713del, NG_016341.1:g.704_713del, NG_016341.1:g.705_713del, NG_016341.1:g.706_713del, NG_016341.1:g.707_713del, NG_016341.1:g.709_713del, NG_016341.1:g.710_713del, NG_016341.1:g.711_713del, NG_016341.1:g.712_713del, NG_016341.1:g.713del, NG_016341.1:g.713dup, NG_016341.1:g.712_713dup, NG_016341.1:g.711_713dup, NG_016341.1:g.710_713dup, NG_016341.1:g.709_713dup, NG_016341.1:g.708_713dup, NG_016341.1:g.707_713dup, NG_016341.1:g.706_713dup, NG_016341.1:g.705_713dup, NG_016341.1:g.697_713dup

Select item 14913528456.

rs1491352845 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:12700161 (GRCh38)
12:12853095 (GRCh37)
Canonical SPDI:: NC_000012.12:12700159:TTT:T
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000404/12 (GnomAD)
-=0.000425/7 (TOMMO)
-=0.001121/2 (Korea1K)
HGVS:: NC_000012.12:g.12700161_12700162del, NC_000012.11:g.12853095_12853096del

Select item 14913435617.

rs1491343561 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:12667696 (GRCh38)
12:12820630 (GRCh37)
Canonical SPDI:: NC_000012.12:12667694:AGA:A
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.12667696_12667697del, NC_000012.11:g.12820630_12820631del

Select item 14913393388.

rs1491339338 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:12701919 (GRCh38)
12:12854853 (GRCh37)
Canonical SPDI:: NC_000012.12:12701918:CA:
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.08329/988 (ALFA)
-=0.01105/182 (TOMMO)
-=0.0158/418 (GnomAD)
HGVS:: NC_000012.12:g.12701919_12701920del, NC_000012.11:g.12854853_12854854del

Select item 14913321419.

rs1491332141 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:12678073 (GRCh38)
12:12831007 (GRCh37)
Canonical SPDI:: NC_000012.12:12678072:CA:
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
HGVS:: NC_000012.12:g.12678073_12678074del, NC_000012.11:g.12831007_12831008del

Select item 149132514710.

rs1491325147 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:12713057 (GRCh38)
12:12865991 (GRCh37)
Canonical SPDI:: NC_000012.12:12713056:CT:
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000012.12:g.12713057_12713058del, NC_000012.11:g.12865991_12865992del, NG_016341.1:g.690_691del

Select item 149131708811.

rs1491317088 has merged into rs56014911 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:12678087 (GRCh38)
12:12831021 (GRCh37)
Canonical SPDI:: NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12678073:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPR19 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000012.12:g.12678087_12678100del, NC_000012.12:g.12678088_12678100del, NC_000012.12:g.12678089_12678100del, NC_000012.12:g.12678090_12678100del, NC_000012.12:g.12678091_12678100del, NC_000012.12:g.12678092_12678100del, NC_000012.12:g.12678093_12678100del, NC_000012.12:g.12678094_12678100del, NC_000012.12:g.12678095_12678100del, NC_000012.12:g.12678096_12678100del, NC_000012.12:g.12678097_12678100del, NC_000012.12:g.12678098_12678100del, NC_000012.12:g.12678099_12678100del, NC_000012.12:g.12678100del, NC_000012.12:g.12678100dup, NC_000012.12:g.12678099_12678100dup, NC_000012.12:g.12678098_12678100dup, NC_000012.12:g.12678097_12678100dup, NC_000012.12:g.12678096_12678100dup, NC_000012.12:g.12678095_12678100dup, NC_000012.12:g.12678094_12678100dup, NC_000012.11:g.12831021_12831034del, NC_000012.11:g.12831022_12831034del, NC_000012.11:g.12831023_12831034del, NC_000012.11:g.12831024_12831034del, NC_000012.11:g.12831025_12831034del, NC_000012.11:g.12831026_12831034del, NC_000012.11:g.12831027_12831034del, NC_000012.11:g.12831028_12831034del, NC_000012.11:g.12831029_12831034del, NC_000012.11:g.12831030_12831034del, NC_000012.11:g.12831031_12831034del, NC_000012.11:g.12831032_12831034del, NC_000012.11:g.12831033_12831034del, NC_000012.11:g.12831034del, NC_000012.11:g.12831034dup, NC_000012.11:g.12831033_12831034dup, NC_000012.11:g.12831032_12831034dup, NC_000012.11:g.12831031_12831034dup, NC_000012.11:g.12831030_12831034dup, NC_000012.11:g.12831029_12831034dup, NC_000012.11:g.12831028_12831034dup

Select item 149130589412.

rs1491305894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 12:12689124 (GRCh38)
12:12842059 (GRCh37)
Canonical SPDI:: NC_000012.12:12689124:AGAGAGAGAG:AGAGAGAGAGAG
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAG=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
AG=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.12689125AG[6], NC_000012.11:g.12842059AG[6]

Select item 149125200713.

rs1491252007 has merged into rs35775784 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:12674218 (GRCh38)
12:12827152 (GRCh37)
Canonical SPDI:: NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12674209:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPR19 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3861/1488 (ALSPAC)
HGVS:: NC_000012.12:g.12674218_12674231del, NC_000012.12:g.12674220_12674231del, NC_000012.12:g.12674221_12674231del, NC_000012.12:g.12674225_12674231del, NC_000012.12:g.12674226_12674231del, NC_000012.12:g.12674227_12674231del, NC_000012.12:g.12674228_12674231del, NC_000012.12:g.12674229_12674231del, NC_000012.12:g.12674230_12674231del, NC_000012.12:g.12674231del, NC_000012.12:g.12674231dup, NC_000012.12:g.12674230_12674231dup, NC_000012.12:g.12674229_12674231dup, NC_000012.12:g.12674226_12674231dup, NC_000012.11:g.12827152_12827165del, NC_000012.11:g.12827154_12827165del, NC_000012.11:g.12827155_12827165del, NC_000012.11:g.12827159_12827165del, NC_000012.11:g.12827160_12827165del, NC_000012.11:g.12827161_12827165del, NC_000012.11:g.12827162_12827165del, NC_000012.11:g.12827163_12827165del, NC_000012.11:g.12827164_12827165del, NC_000012.11:g.12827165del, NC_000012.11:g.12827165dup, NC_000012.11:g.12827164_12827165dup, NC_000012.11:g.12827163_12827165dup, NC_000012.11:g.12827160_12827165dup

Select item 149123050614.

rs1491230506 has merged into rs576901058 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:12701932 (GRCh38)
12:12854866 (GRCh37)
Canonical SPDI:: NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12701919:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPR19 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1404/703 (1000Genomes)
-=0.4631/251 (NorthernSweden)
HGVS:: NC_000012.12:g.12701932_12701940del, NC_000012.12:g.12701933_12701940del, NC_000012.12:g.12701934_12701940del, NC_000012.12:g.12701935_12701940del, NC_000012.12:g.12701936_12701940del, NC_000012.12:g.12701937_12701940del, NC_000012.12:g.12701938_12701940del, NC_000012.12:g.12701939_12701940del, NC_000012.12:g.12701940del, NC_000012.12:g.12701940dup, NC_000012.12:g.12701939_12701940dup, NC_000012.12:g.12701938_12701940dup, NC_000012.12:g.12701937_12701940dup, NC_000012.11:g.12854866_12854874del, NC_000012.11:g.12854867_12854874del, NC_000012.11:g.12854868_12854874del, NC_000012.11:g.12854869_12854874del, NC_000012.11:g.12854870_12854874del, NC_000012.11:g.12854871_12854874del, NC_000012.11:g.12854872_12854874del, NC_000012.11:g.12854873_12854874del, NC_000012.11:g.12854874del, NC_000012.11:g.12854874dup, NC_000012.11:g.12854873_12854874dup, NC_000012.11:g.12854872_12854874dup, NC_000012.11:g.12854871_12854874dup

Select item 149117644815.

rs1491176448 has merged into rs10716814 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:12699985 (GRCh38)
12:12852919 (GRCh37)
Canonical SPDI:: NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTT,NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:12699978:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GPR19 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.0568/219 (ALSPAC)
T=0.0615/228 (TWINSUK)
HGVS:: NC_000012.12:g.12699985_12699993del, NC_000012.12:g.12699986_12699993del, NC_000012.12:g.12699987_12699993del, NC_000012.12:g.12699991_12699993del, NC_000012.12:g.12699992_12699993del, NC_000012.12:g.12699993del, NC_000012.12:g.12699993dup, NC_000012.12:g.12699985_12699993dup, NC_000012.11:g.12852919_12852927del, NC_000012.11:g.12852920_12852927del, NC_000012.11:g.12852921_12852927del, NC_000012.11:g.12852925_12852927del, NC_000012.11:g.12852926_12852927del, NC_000012.11:g.12852927del, NC_000012.11:g.12852927dup, NC_000012.11:g.12852919_12852927dup

Select item 149107268816.

rs1491072688 has merged into rs5796506 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 12:12710368 (GRCh38)
12:12863302 (GRCh37)
Canonical SPDI:: NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12710354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPR19 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.368/1843 (1000Genomes)
HGVS:: NC_000012.12:g.12710368_12710370del, NC_000012.12:g.12710369_12710370del, NC_000012.12:g.12710370del, NC_000012.12:g.12710370dup, NC_000012.12:g.12710369_12710370dup, NC_000012.12:g.12710368_12710370dup, NC_000012.12:g.12710367_12710370dup, NC_000012.12:g.12710366_12710370dup, NC_000012.12:g.12710363_12710370dup, NC_000012.11:g.12863302_12863304del, NC_000012.11:g.12863303_12863304del, NC_000012.11:g.12863304del, NC_000012.11:g.12863304dup, NC_000012.11:g.12863303_12863304dup, NC_000012.11:g.12863302_12863304dup, NC_000012.11:g.12863301_12863304dup, NC_000012.11:g.12863300_12863304dup, NC_000012.11:g.12863297_12863304dup, XM_011520624.3:c.-1290_-1288del, XM_011520624.3:c.-1289_-1288del, XM_011520624.3:c.-1288del, XM_011520624.3:c.-1288dup, XM_011520624.3:c.-1289_-1288dup, XM_011520624.3:c.-1290_-1288dup, XM_011520624.3:c.-1291_-1288dup, XM_011520624.3:c.-1292_-1288dup, XM_011520624.3:c.-1295_-1288dup, XM_047428741.1:c.-3200_-3198del, XM_047428741.1:c.-3199_-3198del, XM_047428741.1:c.-3198del, XM_047428741.1:c.-3198dup, XM_047428741.1:c.-3199_-3198dup, XM_047428741.1:c.-3200_-3198dup, XM_047428741.1:c.-3201_-3198dup, XM_047428741.1:c.-3202_-3198dup, XM_047428741.1:c.-3205_-3198dup

Select item 149103487917.

rs1491034879 has merged into rs57007032 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:12705125 (GRCh38)
12:12858059 (GRCh37)
Canonical SPDI:: NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:12705115:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GPR19 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3476/1741 (1000Genomes)
HGVS:: NC_000012.12:g.12705125_12705131del, NC_000012.12:g.12705128_12705131del, NC_000012.12:g.12705129_12705131del, NC_000012.12:g.12705130_12705131del, NC_000012.12:g.12705131del, NC_000012.12:g.12705131dup, NC_000012.12:g.12705130_12705131dup, NC_000012.12:g.12705129_12705131dup, NC_000012.12:g.12705128_12705131dup, NC_000012.12:g.12705127_12705131dup, NC_000012.12:g.12705126_12705131dup, NC_000012.12:g.12705125_12705131dup, NC_000012.12:g.12705124_12705131dup, NC_000012.12:g.12705121_12705131dup, NC_000012.11:g.12858059_12858065del, NC_000012.11:g.12858062_12858065del, NC_000012.11:g.12858063_12858065del, NC_000012.11:g.12858064_12858065del, NC_000012.11:g.12858065del, NC_000012.11:g.12858065dup, NC_000012.11:g.12858064_12858065dup, NC_000012.11:g.12858063_12858065dup, NC_000012.11:g.12858062_12858065dup, NC_000012.11:g.12858061_12858065dup, NC_000012.11:g.12858060_12858065dup, NC_000012.11:g.12858059_12858065dup, NC_000012.11:g.12858058_12858065dup, NC_000012.11:g.12858055_12858065dup

Select item 149096172818.

rs1490961728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:12708744 (GRCh38)
12:12861678 (GRCh37)
Canonical SPDI:: NC_000012.12:12708743:A:G
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.12708744A>G, NC_000012.11:g.12861678A>G

Select item 149092852519.

rs1490928525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:12661426 (GRCh38)
12:12814360 (GRCh37)
Canonical SPDI:: NC_000012.12:12661425:C:T
Gene:: GPR19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.12661426C>T, NC_000012.11:g.12814360C>T, XM_011520623.4:c.1080G>A, XM_011520623.3:c.1080G>A, XM_011520623.2:c.1080G>A, XM_011520623.1:c.1080G>A, XM_011520624.3:c.1080G>A, XM_011520624.2:c.1080G>A, XM_011520624.1:c.1080G>A, NM_006143.3:c.1023G>A, NM_006143.2:c.1023G>A, XM_047428741.1:c.1080G>A, XM_047428742.1:c.1023G>A, XP_011518925.1:p.Met360Ile, XP_011518926.1:p.Met360Ile, NP_006134.2:p.Met341Ile, XP_047284697.1:p.Met360Ile, XP_047284698.1:p.Met341Ile

Select item 149090586220.

rs1490905862 has merged into rs3080711 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:12679441 (GRCh38)
12:12832375 (GRCh37)
Canonical SPDI:: NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:12679428:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPR19 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.12679441_12679448del, NC_000012.12:g.12679442_12679448del, NC_000012.12:g.12679443_12679448del, NC_000012.12:g.12679444_12679448del, NC_000012.12:g.12679445_12679448del, NC_000012.12:g.12679446_12679448del, NC_000012.12:g.12679447_12679448del, NC_000012.12:g.12679448del, NC_000012.12:g.12679448dup, NC_000012.12:g.12679447_12679448dup, NC_000012.12:g.12679446_12679448dup, NC_000012.12:g.12679443_12679448dup, NC_000012.11:g.12832375_12832382del, NC_000012.11:g.12832376_12832382del, NC_000012.11:g.12832377_12832382del, NC_000012.11:g.12832378_12832382del, NC_000012.11:g.12832379_12832382del, NC_000012.11:g.12832380_12832382del, NC_000012.11:g.12832381_12832382del, NC_000012.11:g.12832382del, NC_000012.11:g.12832382dup, NC_000012.11:g.12832381_12832382dup, NC_000012.11:g.12832380_12832382dup, NC_000012.11:g.12832377_12832382dup

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