SNP Links for Gene (Select 3290) - SNP

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Select item 14914560881.

rs1491456088 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCTTGGAGCAGCCTCAGC [Show Flanks]
Chromosome:: 1:209707164 (GRCh38)
1:209880510 (GRCh37)
Canonical SPDI:: NC_000001.11:209707164::GCTTGGAGCAGCCTCAGC
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.209707164_209707165insGCTTGGAGCAGCCTCAGC, NC_000001.10:g.209880509_209880510insGCTTGGAGCAGCCTCAGC, NG_012081.1:g.25960_25961insGCTTGGAGCAGCCTCAGC

Select item 14914429362.

rs1491442936 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:209706152 (GRCh38)
1:209879497 (GRCh37)
Canonical SPDI:: NC_000001.11:209706151:AT:
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.209706152_209706153del, NC_000001.10:g.209879497_209879498del, NG_012081.1:g.24948_24949del

Select item 14914036463.

rs1491403646 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:209726276 (GRCh38)
1:209899621 (GRCh37)
Canonical SPDI:: NC_000001.11:209726275:TA:
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.209726276_209726277del, NC_000001.10:g.209899621_209899622del, NG_012081.1:g.45072_45073del

Select item 14912512284.

rs1491251228 has merged into rs60207937 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:209726290 (GRCh38)
1:209899635 (GRCh37)
Canonical SPDI:: NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209726276:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.209726290_209726304del, NC_000001.11:g.209726294_209726304del, NC_000001.11:g.209726295_209726304del, NC_000001.11:g.209726296_209726304del, NC_000001.11:g.209726297_209726304del, NC_000001.11:g.209726298_209726304del, NC_000001.11:g.209726299_209726304del, NC_000001.11:g.209726300_209726304del, NC_000001.11:g.209726301_209726304del, NC_000001.11:g.209726302_209726304del, NC_000001.11:g.209726303_209726304del, NC_000001.11:g.209726304del, NC_000001.11:g.209726304dup, NC_000001.11:g.209726303_209726304dup, NC_000001.11:g.209726302_209726304dup, NC_000001.11:g.209726298_209726304dup, NC_000001.10:g.209899635_209899649del, NC_000001.10:g.209899639_209899649del, NC_000001.10:g.209899640_209899649del, NC_000001.10:g.209899641_209899649del, NC_000001.10:g.209899642_209899649del, NC_000001.10:g.209899643_209899649del, NC_000001.10:g.209899644_209899649del, NC_000001.10:g.209899645_209899649del, NC_000001.10:g.209899646_209899649del, NC_000001.10:g.209899647_209899649del, NC_000001.10:g.209899648_209899649del, NC_000001.10:g.209899649del, NC_000001.10:g.209899649dup, NC_000001.10:g.209899648_209899649dup, NC_000001.10:g.209899647_209899649dup, NC_000001.10:g.209899643_209899649dup, NG_012081.1:g.45086_45100del, NG_012081.1:g.45090_45100del, NG_012081.1:g.45091_45100del, NG_012081.1:g.45092_45100del, NG_012081.1:g.45093_45100del, NG_012081.1:g.45094_45100del, NG_012081.1:g.45095_45100del, NG_012081.1:g.45096_45100del, NG_012081.1:g.45097_45100del, NG_012081.1:g.45098_45100del, NG_012081.1:g.45099_45100del, NG_012081.1:g.45100del, NG_012081.1:g.45100dup, NG_012081.1:g.45099_45100dup, NG_012081.1:g.45098_45100dup, NG_012081.1:g.45094_45100dup

Select item 14912071835.

rs1491207183 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:209705372 (GRCh38)
1:209878717 (GRCh37)
Canonical SPDI:: NC_000001.11:209705371:CA:
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.209705372_209705373del, NC_000001.10:g.209878717_209878718del, NG_012081.1:g.24168_24169del

Select item 14911840596.

rs1491184059 has merged into rs796545462 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 1:209692613 (GRCh38)
1:209865958 (GRCh37)
Canonical SPDI:: NC_000001.11:209692607:GGGGGGGGGGG:GGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:209692607:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.209692613_209692618del, NC_000001.11:g.209692617_209692618del, NC_000001.11:g.209692618del, NC_000001.11:g.209692618dup, NC_000001.11:g.209692617_209692618dup, NC_000001.11:g.209692616_209692618dup, NC_000001.11:g.209692615_209692618dup, NC_000001.11:g.209692614_209692618dup, NC_000001.11:g.209692613_209692618dup, NC_000001.11:g.209692612_209692618dup, NC_000001.11:g.209692611_209692618dup, NC_000001.11:g.209692610_209692618dup, NC_000001.11:g.209692609_209692618dup, NC_000001.11:g.209692608_209692618dup, NC_000001.11:g.209692618_209692619insGGGGGGGGGGGGG, NC_000001.11:g.209692618_209692619insGGGGGGGGGGGGGG, NC_000001.11:g.209692618_209692619insGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.209865958_209865963del, NC_000001.10:g.209865962_209865963del, NC_000001.10:g.209865963del, NC_000001.10:g.209865963dup, NC_000001.10:g.209865962_209865963dup, NC_000001.10:g.209865961_209865963dup, NC_000001.10:g.209865960_209865963dup, NC_000001.10:g.209865959_209865963dup, NC_000001.10:g.209865958_209865963dup, NC_000001.10:g.209865957_209865963dup, NC_000001.10:g.209865956_209865963dup, NC_000001.10:g.209865955_209865963dup, NC_000001.10:g.209865954_209865963dup, NC_000001.10:g.209865953_209865963dup, NC_000001.10:g.209865963_209865964insGGGGGGGGGGGGG, NC_000001.10:g.209865963_209865964insGGGGGGGGGGGGGG, NC_000001.10:g.209865963_209865964insGGGGGGGGGGGGGGGGGGG, NG_012081.1:g.11409_11414del, NG_012081.1:g.11413_11414del, NG_012081.1:g.11414del, NG_012081.1:g.11414dup, NG_012081.1:g.11413_11414dup, NG_012081.1:g.11412_11414dup, NG_012081.1:g.11411_11414dup, NG_012081.1:g.11410_11414dup, NG_012081.1:g.11409_11414dup, NG_012081.1:g.11408_11414dup, NG_012081.1:g.11407_11414dup, NG_012081.1:g.11406_11414dup, NG_012081.1:g.11405_11414dup, NG_012081.1:g.11404_11414dup, NG_012081.1:g.11414_11415insGGGGGGGGGGGGG, NG_012081.1:g.11414_11415insGGGGGGGGGGGGGG, NG_012081.1:g.11414_11415insGGGGGGGGGGGGGGGGGGG

Select item 14911466447.

rs1491146644 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:209705384 (GRCh38)
1:209878730 (GRCh37)
Canonical SPDI:: NC_000001.11:209705384::C
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.209705384_209705385insC, NC_000001.10:g.209878729_209878730insC, NG_012081.1:g.24180_24181insC

Select item 14910530498.

rs1491053049 has merged into rs5780533 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:209705384 (GRCh38)
1:209878729 (GRCh37)
Canonical SPDI:: NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209705372:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.246406/1234 (1000Genomes)
HGVS:: NC_000001.11:g.209705384_209705392del, NC_000001.11:g.209705385_209705392del, NC_000001.11:g.209705386_209705392del, NC_000001.11:g.209705388_209705392del, NC_000001.11:g.209705389_209705392del, NC_000001.11:g.209705390_209705392del, NC_000001.11:g.209705391_209705392del, NC_000001.11:g.209705392del, NC_000001.11:g.209705392dup, NC_000001.11:g.209705391_209705392dup, NC_000001.11:g.209705390_209705392dup, NC_000001.11:g.209705389_209705392dup, NC_000001.11:g.209705388_209705392dup, NC_000001.11:g.209705378_209705392dup, NC_000001.10:g.209878729_209878737del, NC_000001.10:g.209878730_209878737del, NC_000001.10:g.209878731_209878737del, NC_000001.10:g.209878733_209878737del, NC_000001.10:g.209878734_209878737del, NC_000001.10:g.209878735_209878737del, NC_000001.10:g.209878736_209878737del, NC_000001.10:g.209878737del, NC_000001.10:g.209878737dup, NC_000001.10:g.209878736_209878737dup, NC_000001.10:g.209878735_209878737dup, NC_000001.10:g.209878734_209878737dup, NC_000001.10:g.209878733_209878737dup, NC_000001.10:g.209878723_209878737dup, NG_012081.1:g.24180_24188del, NG_012081.1:g.24181_24188del, NG_012081.1:g.24182_24188del, NG_012081.1:g.24184_24188del, NG_012081.1:g.24185_24188del, NG_012081.1:g.24186_24188del, NG_012081.1:g.24187_24188del, NG_012081.1:g.24188del, NG_012081.1:g.24188dup, NG_012081.1:g.24187_24188dup, NG_012081.1:g.24186_24188dup, NG_012081.1:g.24185_24188dup, NG_012081.1:g.24184_24188dup, NG_012081.1:g.24174_24188dup

Select item 14910389029.

rs1491038902 has merged into rs3059693 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:209721479 (GRCh38)
1:209894824 (GRCh37)
Canonical SPDI:: NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:209721469:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209721479_209721487del, NC_000001.11:g.209721481_209721487del, NC_000001.11:g.209721483_209721487del, NC_000001.11:g.209721484_209721487del, NC_000001.11:g.209721485_209721487del, NC_000001.11:g.209721486_209721487del, NC_000001.11:g.209721487del, NC_000001.11:g.209721487dup, NC_000001.11:g.209721486_209721487dup, NC_000001.11:g.209721485_209721487dup, NC_000001.11:g.209721484_209721487dup, NC_000001.11:g.209721483_209721487dup, NC_000001.11:g.209721482_209721487dup, NC_000001.11:g.209721481_209721487dup, NC_000001.11:g.209721480_209721487dup, NC_000001.11:g.209721479_209721487dup, NC_000001.11:g.209721478_209721487dup, NC_000001.11:g.209721477_209721487dup, NC_000001.10:g.209894824_209894832del, NC_000001.10:g.209894826_209894832del, NC_000001.10:g.209894828_209894832del, NC_000001.10:g.209894829_209894832del, NC_000001.10:g.209894830_209894832del, NC_000001.10:g.209894831_209894832del, NC_000001.10:g.209894832del, NC_000001.10:g.209894832dup, NC_000001.10:g.209894831_209894832dup, NC_000001.10:g.209894830_209894832dup, NC_000001.10:g.209894829_209894832dup, NC_000001.10:g.209894828_209894832dup, NC_000001.10:g.209894827_209894832dup, NC_000001.10:g.209894826_209894832dup, NC_000001.10:g.209894825_209894832dup, NC_000001.10:g.209894824_209894832dup, NC_000001.10:g.209894823_209894832dup, NC_000001.10:g.209894822_209894832dup, NG_012081.1:g.40275_40283del, NG_012081.1:g.40277_40283del, NG_012081.1:g.40279_40283del, NG_012081.1:g.40280_40283del, NG_012081.1:g.40281_40283del, NG_012081.1:g.40282_40283del, NG_012081.1:g.40283del, NG_012081.1:g.40283dup, NG_012081.1:g.40282_40283dup, NG_012081.1:g.40281_40283dup, NG_012081.1:g.40280_40283dup, NG_012081.1:g.40279_40283dup, NG_012081.1:g.40278_40283dup, NG_012081.1:g.40277_40283dup, NG_012081.1:g.40276_40283dup, NG_012081.1:g.40275_40283dup, NG_012081.1:g.40274_40283dup, NG_012081.1:g.40273_40283dup

Select item 149094773110.

rs1490947731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:209717949 (GRCh38)
1:209891294 (GRCh37)
Canonical SPDI:: NC_000001.11:209717948:A:T
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.209717949A>T, NC_000001.10:g.209891294A>T, NG_012081.1:g.36745A>T

Select item 149081796311.

rs1490817963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:209724932 (GRCh38)
1:209898277 (GRCh37)
Canonical SPDI:: NC_000001.11:209724931:C:A,NC_000001.11:209724931:C:T
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.209724932C>A, NC_000001.11:g.209724932C>T, NC_000001.10:g.209898277C>A, NC_000001.10:g.209898277C>T, NG_012081.1:g.43728C>A, NG_012081.1:g.43728C>T

Select item 149067574912.

rs1490675749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209695189 (GRCh38)
1:209868534 (GRCh37)
Canonical SPDI:: NC_000001.11:209695188:C:T
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.209695189C>T, NC_000001.10:g.209868534C>T, NG_012081.1:g.13985C>T

Select item 149061936013.

rs1490619360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:209691539 (GRCh38)
1:209864884 (GRCh37)
Canonical SPDI:: NC_000001.11:209691538:C:A
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209691539C>A, NC_000001.10:g.209864884C>A, NG_012081.1:g.10335C>A

Select item 149053796014.

rs1490537960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209697816 (GRCh38)
1:209871161 (GRCh37)
Canonical SPDI:: NC_000001.11:209697815:A:G
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.209697816A>G, NC_000001.10:g.209871161A>G, NG_012081.1:g.16612A>G

Select item 149045631715.

rs1490456317 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:209717423 (GRCh38)
1:209890768 (GRCh37)
Canonical SPDI:: NC_000001.11:209717422:AAAA:AAA
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209717426del, NC_000001.10:g.209890771del, NG_012081.1:g.36222del

Select item 149039815216.

rs1490398152 has merged into rs150591168 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 1:209733789 (GRCh38)
1:209907134 (GRCh37)
Canonical SPDI:: NC_000001.11:209733778:GAGAGAGAGAGAGA:GAGAGAGAGA,NC_000001.11:209733778:GAGAGAGAGAGAGA:GAGAGAGAGAGA
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.209733779GA[5], NC_000001.11:g.209733779GA[6], NC_000001.10:g.209907124GA[5], NC_000001.10:g.209907124GA[6], NG_012081.1:g.52575GA[5], NG_012081.1:g.52575GA[6]

Select item 149038791417.

rs1490387914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:209734959 (GRCh38)
1:209908304 (GRCh37)
Canonical SPDI:: NC_000001.11:209734958:T:G
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.209734959T>G, NC_000001.10:g.209908304T>G, NG_012081.1:g.53755T>G

Select item 149034435418.

rs1490344354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:209725751 (GRCh38)
1:209899096 (GRCh37)
Canonical SPDI:: NC_000001.11:209725750:G:C
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.209725751G>C, NC_000001.10:g.209899096G>C, NG_012081.1:g.44547G>C

Select item 149026218619.

rs1490262186 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:209702247 (GRCh38)
1:209875592 (GRCh37)
Canonical SPDI:: NC_000001.11:209702246:T:
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.209702247del, NC_000001.10:g.209875592del, NG_012081.1:g.21043del

Select item 149019639320.

rs1490196393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:209699545 (GRCh38)
1:209872890 (GRCh37)
Canonical SPDI:: NC_000001.11:209699544:G:T
Gene:: HSD11B1 (Varview), HSD11B1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209699545G>T, NC_000001.10:g.209872890G>T, NG_012081.1:g.18341G>T

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