SNP Links for Gene (Select 100689074) - SNP

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Select item 14915043531.

rs1491504353 has merged into rs5883669 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:38996045 (GRCh38)
7:39035645 (GRCh37)
Canonical SPDI:: NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:38996035:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTT=0.309/1191 (ALSPAC)
HGVS:: NC_000007.14:g.38996045_38996057del, NC_000007.14:g.38996048_38996057del, NC_000007.14:g.38996049_38996057del, NC_000007.14:g.38996050_38996057del, NC_000007.14:g.38996051_38996057del, NC_000007.14:g.38996053_38996057del, NC_000007.14:g.38996054_38996057del, NC_000007.14:g.38996055_38996057del, NC_000007.14:g.38996056_38996057del, NC_000007.14:g.38996057del, NC_000007.14:g.38996057dup, NC_000007.14:g.38996056_38996057dup, NC_000007.14:g.38996055_38996057dup, NC_000007.14:g.38996054_38996057dup, NC_000007.14:g.38996053_38996057dup, NC_000007.14:g.38996052_38996057dup, NC_000007.14:g.38996051_38996057dup, NC_000007.14:g.38996050_38996057dup, NC_000007.14:g.38996049_38996057dup, NC_000007.14:g.38996048_38996057dup, NC_000007.14:g.38996047_38996057dup, NC_000007.14:g.38996046_38996057dup, NC_000007.14:g.38996045_38996057dup, NC_000007.14:g.38996044_38996057dup, NC_000007.14:g.38996043_38996057dup, NC_000007.14:g.38996042_38996057dup, NC_000007.14:g.38996041_38996057dup, NC_000007.14:g.38996038_38996057dup, NC_000007.14:g.38996057_38996058insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.38996057_38996058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.39035645_39035657del, NC_000007.13:g.39035648_39035657del, NC_000007.13:g.39035649_39035657del, NC_000007.13:g.39035650_39035657del, NC_000007.13:g.39035651_39035657del, NC_000007.13:g.39035653_39035657del, NC_000007.13:g.39035654_39035657del, NC_000007.13:g.39035655_39035657del, NC_000007.13:g.39035656_39035657del, NC_000007.13:g.39035657del, NC_000007.13:g.39035657dup, NC_000007.13:g.39035656_39035657dup, NC_000007.13:g.39035655_39035657dup, NC_000007.13:g.39035654_39035657dup, NC_000007.13:g.39035653_39035657dup, NC_000007.13:g.39035652_39035657dup, NC_000007.13:g.39035651_39035657dup, NC_000007.13:g.39035650_39035657dup, NC_000007.13:g.39035649_39035657dup, NC_000007.13:g.39035648_39035657dup, NC_000007.13:g.39035647_39035657dup, NC_000007.13:g.39035646_39035657dup, NC_000007.13:g.39035645_39035657dup, NC_000007.13:g.39035644_39035657dup, NC_000007.13:g.39035643_39035657dup, NC_000007.13:g.39035642_39035657dup, NC_000007.13:g.39035641_39035657dup, NC_000007.13:g.39035638_39035657dup, NC_000007.13:g.39035657_39035658insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.39035657_39035658insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016022.2:g.23168_23180del, NG_016022.2:g.23171_23180del, NG_016022.2:g.23172_23180del, NG_016022.2:g.23173_23180del, NG_016022.2:g.23174_23180del, NG_016022.2:g.23176_23180del, NG_016022.2:g.23177_23180del, NG_016022.2:g.23178_23180del, NG_016022.2:g.23179_23180del, NG_016022.2:g.23180del, NG_016022.2:g.23180dup, NG_016022.2:g.23179_23180dup, NG_016022.2:g.23178_23180dup, NG_016022.2:g.23177_23180dup, NG_016022.2:g.23176_23180dup, NG_016022.2:g.23175_23180dup, NG_016022.2:g.23174_23180dup, NG_016022.2:g.23173_23180dup, NG_016022.2:g.23172_23180dup, NG_016022.2:g.23171_23180dup, NG_016022.2:g.23170_23180dup, NG_016022.2:g.23169_23180dup, NG_016022.2:g.23168_23180dup, NG_016022.2:g.23167_23180dup, NG_016022.2:g.23166_23180dup, NG_016022.2:g.23165_23180dup, NG_016022.2:g.23164_23180dup, NG_016022.2:g.23161_23180dup, NG_016022.2:g.23180_23181insTTTTTTTTTTTTTTTTTTTTTTTT, NG_016022.2:g.23180_23181insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914066702.

rs1491406670 has merged into rs56984287 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:39005502 (GRCh38)
7:39045102 (GRCh37)
Canonical SPDI:: NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:39005484:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000007.14:g.39005486GT[8], NC_000007.14:g.39005486GT[10], NC_000007.14:g.39005486GT[11], NC_000007.14:g.39005486GT[12], NC_000007.14:g.39005486GT[13], NC_000007.14:g.39005486GT[14], NC_000007.14:g.39005486GT[16], NC_000007.14:g.39005486GT[17], NC_000007.14:g.39005486GT[18], NC_000007.14:g.39005486GT[19], NC_000007.14:g.39005486GT[20], NC_000007.14:g.39005486GT[21], NC_000007.14:g.39005486GT[22], NC_000007.14:g.39005486GT[23], NC_000007.14:g.39005486GT[24], NC_000007.14:g.39005486GT[25], NC_000007.14:g.39005486GT[26], NC_000007.14:g.39005486GT[27], NC_000007.14:g.39005486GT[28], NC_000007.14:g.39005486GT[29], NC_000007.14:g.39005486GT[30], NC_000007.14:g.39005486GT[31], NC_000007.14:g.39005486GT[32], NC_000007.14:g.39005486GT[33], NC_000007.14:g.39005486GT[34], NC_000007.14:g.39005486GT[35], NC_000007.14:g.39005486GT[36], NC_000007.14:g.39005486GT[37], NC_000007.14:g.39005486GT[38], NC_000007.14:g.39005486GT[39], NC_000007.14:g.39005486GT[40], NC_000007.13:g.39045086GT[8], NC_000007.13:g.39045086GT[10], NC_000007.13:g.39045086GT[11], NC_000007.13:g.39045086GT[12], NC_000007.13:g.39045086GT[13], NC_000007.13:g.39045086GT[14], NC_000007.13:g.39045086GT[16], NC_000007.13:g.39045086GT[17], NC_000007.13:g.39045086GT[18], NC_000007.13:g.39045086GT[19], NC_000007.13:g.39045086GT[20], NC_000007.13:g.39045086GT[21], NC_000007.13:g.39045086GT[22], NC_000007.13:g.39045086GT[23], NC_000007.13:g.39045086GT[24], NC_000007.13:g.39045086GT[25], NC_000007.13:g.39045086GT[26], NC_000007.13:g.39045086GT[27], NC_000007.13:g.39045086GT[28], NC_000007.13:g.39045086GT[29], NC_000007.13:g.39045086GT[30], NC_000007.13:g.39045086GT[31], NC_000007.13:g.39045086GT[32], NC_000007.13:g.39045086GT[33], NC_000007.13:g.39045086GT[34], NC_000007.13:g.39045086GT[35], NC_000007.13:g.39045086GT[36], NC_000007.13:g.39045086GT[37], NC_000007.13:g.39045086GT[38], NC_000007.13:g.39045086GT[39], NC_000007.13:g.39045086GT[40], NG_016022.2:g.32609GT[8], NG_016022.2:g.32609GT[10], NG_016022.2:g.32609GT[11], NG_016022.2:g.32609GT[12], NG_016022.2:g.32609GT[13], NG_016022.2:g.32609GT[14], NG_016022.2:g.32609GT[16], NG_016022.2:g.32609GT[17], NG_016022.2:g.32609GT[18], NG_016022.2:g.32609GT[19], NG_016022.2:g.32609GT[20], NG_016022.2:g.32609GT[21], NG_016022.2:g.32609GT[22], NG_016022.2:g.32609GT[23], NG_016022.2:g.32609GT[24], NG_016022.2:g.32609GT[25], NG_016022.2:g.32609GT[26], NG_016022.2:g.32609GT[27], NG_016022.2:g.32609GT[28], NG_016022.2:g.32609GT[29], NG_016022.2:g.32609GT[30], NG_016022.2:g.32609GT[31], NG_016022.2:g.32609GT[32], NG_016022.2:g.32609GT[33], NG_016022.2:g.32609GT[34], NG_016022.2:g.32609GT[35], NG_016022.2:g.32609GT[36], NG_016022.2:g.32609GT[37], NG_016022.2:g.32609GT[38], NG_016022.2:g.32609GT[39], NG_016022.2:g.32609GT[40]

Select item 14913861053.

rs1491386105 has merged into rs1013738833 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 7:39015248 (GRCh38)
7:39054848 (GRCh37)
Canonical SPDI:: NC_000007.14:39015240:TATATATAT:TATATAT,NC_000007.14:39015240:TATATATAT:TATATATATAT
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TA=0.000008/2 (TOPMED)
TA=0.000023/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.39015242AT[3], NC_000007.14:g.39015242AT[5], NC_000007.13:g.39054842AT[3], NC_000007.13:g.39054842AT[5], NG_016022.2:g.42365AT[3], NG_016022.2:g.42365AT[5]

Select item 14911615314.

rs1491161531 [Homo sapiens]

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

Select item 14909973965.

rs1490997396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:39006894 (GRCh38)
7:39046494 (GRCh37)
Canonical SPDI:: NC_000007.14:39006893:T:C
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.39006894T>C, NC_000007.13:g.39046494T>C, NG_016022.2:g.34017T>C

Select item 14906414346.

rs1490641434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:38985515 (GRCh38)
7:39025115 (GRCh37)
Canonical SPDI:: NC_000007.14:38985514:C:A
Gene:: POU6F2 (Varview), POU6F2-AS2 (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_000007.14:g.38985515C>A, NC_000007.13:g.39025115C>A, NG_016022.2:g.12638C>A

Select item 14905927567.

rs1490592756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:39001345 (GRCh38)
7:39040945 (GRCh37)
Canonical SPDI:: NC_000007.14:39001344:T:C
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.39001345T>C, NC_000007.13:g.39040945T>C, NG_016022.2:g.28468T>C

Select item 14905856878.

rs1490585687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:38995289 (GRCh38)
7:39034889 (GRCh37)
Canonical SPDI:: NC_000007.14:38995288:G:A
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.38995289G>A, NC_000007.13:g.39034889G>A, NG_016022.2:g.22412G>A

Select item 14904160469.

rs1490416046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:38992335 (GRCh38)
7:39031935 (GRCh37)
Canonical SPDI:: NC_000007.14:38992334:T:A
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.38992335T>A, NC_000007.13:g.39031935T>A, NG_016022.2:g.19458T>A

Select item 149038922810.

rs1490389228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:39007980 (GRCh38)
7:39047581 (GRCh37)
Canonical SPDI:: NC_000007.14:39007980:AAA:AAAA
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.39007983dup, NC_000007.13:g.39047583dup, NG_016022.2:g.35106dup

Select item 149036345811.

rs1490363458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:39007229 (GRCh38)
7:39046829 (GRCh37)
Canonical SPDI:: NC_000007.14:39007228:T:A
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.39007229T>A, NC_000007.13:g.39046829T>A, NG_016022.2:g.34352T>A

Select item 149036140212.

rs1490361402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:39012178 (GRCh38)
7:39051778 (GRCh37)
Canonical SPDI:: NC_000007.14:39012177:G:A
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.39012178G>A, NC_000007.13:g.39051778G>A, NG_016022.2:g.39301G>A

Select item 149031847613.

rs1490318476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:39011365 (GRCh38)
7:39050965 (GRCh37)
Canonical SPDI:: NC_000007.14:39011364:C:T
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0018/8 (ALFA)
HGVS:: NC_000007.14:g.39011365C>T, NC_000007.13:g.39050965C>T, NG_016022.2:g.38488C>T

Select item 149020131214.

rs1490201312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:39012787 (GRCh38)
7:39052387 (GRCh37)
Canonical SPDI:: NC_000007.14:39012786:T:A,NC_000007.14:39012786:T:G
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
A=0.005498/16 (KOREAN)
HGVS:: NC_000007.14:g.39012787T>A, NC_000007.14:g.39012787T>G, NC_000007.13:g.39052387T>A, NC_000007.13:g.39052387T>G, NG_016022.2:g.39910T>A, NG_016022.2:g.39910T>G

Select item 149019162315.

rs1490191623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:38998768 (GRCh38)
7:39038368 (GRCh37)
Canonical SPDI:: NC_000007.14:38998767:G:T
Gene:: POU6F2 (Varview), POU6F2-AS2 (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_000007.14:g.38998768G>T, NC_000007.13:g.39038368G>T, NG_016022.2:g.25891G>T

Select item 149017551816.

rs1490175518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:39006340 (GRCh38)
7:39045940 (GRCh37)
Canonical SPDI:: NC_000007.14:39006339:T:C
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.39006340T>C, NC_000007.13:g.39045940T>C, NG_016022.2:g.33463T>C

Select item 149004293517.

rs1490042935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:38998670 (GRCh38)
7:39038270 (GRCh37)
Canonical SPDI:: NC_000007.14:38998669:A:T
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002/9 (ALFA)
T=0.0018/8 (Estonian)
HGVS:: NC_000007.14:g.38998670A>T, NC_000007.13:g.39038270A>T, NG_016022.2:g.25793A>T

Select item 149003800918.

rs1490038009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:39006258 (GRCh38)
7:39045858 (GRCh37)
Canonical SPDI:: NC_000007.14:39006257:G:C
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.39006258G>C, NC_000007.13:g.39045858G>C, NG_016022.2:g.33381G>C

Select item 149000324619.

rs1490003246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:38983898 (GRCh38)
7:39023498 (GRCh37)
Canonical SPDI:: NC_000007.14:38983897:T:C
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.0005/1 (Korea1K)
HGVS:: NC_000007.14:g.38983898T>C, NC_000007.13:g.39023498T>C, NG_016022.2:g.11021T>C

Select item 148998600820.

rs1489986008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:39005762 (GRCh38)
7:39045362 (GRCh37)
Canonical SPDI:: NC_000007.14:39005761:C:A
Gene:: POU6F2 (Varview), POU6F2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000007.14:g.39005762C>A, NC_000007.13:g.39045362C>A, NG_016022.2:g.32885C>A

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