SNP Links for Gene (Select 169026) - SNP

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Select item 14915851881.

rs1491585188 has merged into rs113720551 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 8:117036117 (GRCh38)
8:118048356 (GRCh37)
Canonical SPDI:: NC_000008.11:117036109:CCCCCCCCC:CCCCCCC,NC_000008.11:117036109:CCCCCCCCC:CCCCCCCC,NC_000008.11:117036109:CCCCCCCCC:CCCCCCCCCC,NC_000008.11:117036109:CCCCCCCCC:CCCCCCCCCCC
Gene:: SLC30A8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0.005112/56 (ALFA)
-=0.175719/880 (1000Genomes)
-=0.200935/43 (Vietnamese)
-=0.213827/56598 (TOPMED)
HGVS:: NC_000008.11:g.117036117_117036118del, NC_000008.11:g.117036118del, NC_000008.11:g.117036118dup, NC_000008.11:g.117036117_117036118dup, NC_000008.10:g.118048356_118048357del, NC_000008.10:g.118048357del, NC_000008.10:g.118048357dup, NC_000008.10:g.118048356_118048357dup, NG_016991.1:g.90845_90846del, NG_016991.1:g.90846del, NG_016991.1:g.90846dup, NG_016991.1:g.90845_90846dup

Select item 14915827882.

rs1491582788 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTAAATAAATATATATATTATATATAATATATA [Show Flanks]
Chromosome:: 8:117097840 (GRCh38)
8:118110080 (GRCh37)
Canonical SPDI:: NC_000008.11:117097840:ATTTTAAATAAATATATATATTATATATAATATATA:ATTTTAAATAAATATATATATTATATATAATATATATTTTAAATAAATATATATATTATATATAATATATA
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: ATTTTAAATAAATATATATATTATATATAATATAT=0.00003/2 (GnomAD)
ATTTTAAATAAATATATATATTATATATAATATAT=0.00049/8 (TOMMO)
HGVS:: NC_000008.11:g.117097842_117097876dup, NC_000008.10:g.118110081_118110115dup, NG_016991.1:g.152570_152604dup

Select item 14915701053.

rs1491570105 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:117097559 (GRCh38)
8:118109798 (GRCh37)
Canonical SPDI:: NC_000008.11:117097552:ATATATAT:ATATAT
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.00319/52 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00109/7 (1000Genomes)
-=0.00297/279 (GnomAD)
HGVS:: NC_000008.11:g.117097553AT[3], NC_000008.10:g.118109792AT[3], NG_016991.1:g.152281AT[3]

Select item 14915699634.

rs1491569963 has merged into rs1437323173 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATATATAATTTTAAATAATATATAT>-,AATATATAATTTTAAATAATATATATAATATATAATTTTAAATAATATATAT [Show Flanks]
Chromosome:: 8:117097660 (GRCh38)
8:118109899 (GRCh37)
Canonical SPDI:: NC_000008.11:117097626:TATATATAATATATAATTTTAAATAATATATATAATATATAATTTTAAATAATATATAT:TATATATAATATATAATTTTAAATAATATATAT,NC_000008.11:117097626:TATATATAATATATAATTTTAAATAATATATATAATATATAATTTTAAATAATATATAT:TATATATAATATATAATTTTAAATAATATATATAATATATAATTTTAAATAATATATATAATATATAATTTTAAATAATATATAT
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAATATATAATTTTAAATAATATATAT=0.0002/1 (ALFA)
HGVS:: NC_000008.11:g.117097634AATATATAATTTTAAATAATATATAT[1], NC_000008.11:g.117097634AATATATAATTTTAAATAATATATAT[3], NC_000008.10:g.118109873AATATATAATTTTAAATAATATATAT[1], NC_000008.10:g.118109873AATATATAATTTTAAATAATATATAT[3], NG_016991.1:g.152362AATATATAATTTTAAATAATATATAT[1], NG_016991.1:g.152362AATATATAATTTTAAATAATATATAT[3]

Select item 14915622765.

rs1491562276 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 8:117045929 (GRCh38)
8:118058169 (GRCh37)
Canonical SPDI:: NC_000008.11:117045929::TC
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
TC=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.117045929_117045930insTC, NC_000008.10:g.118058168_118058169insTC, NG_016991.1:g.100657_100658insTC

Select item 14915507696.

rs1491550769 has merged into rs5894359 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 8:116997509 (GRCh38)
8:118009748 (GRCh37)
Canonical SPDI:: NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTT,NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTTT,NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00437/8 (Korea1K)
-=0.04265/203 (1000Genomes)
T=0.12081/541 (Estonian)
T=0.16343/606 (TWINSUK)
T=0.16866/650 (ALSPAC)
T=0.16934/169 (GoNL)
T=0.175/105 (NorthernSweden)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000008.11:g.116997509_116997510del, NC_000008.11:g.116997510del, NC_000008.11:g.116997510dup, NC_000008.11:g.116997509_116997510dup, NC_000008.10:g.118009748_118009749del, NC_000008.10:g.118009749del, NC_000008.10:g.118009749dup, NC_000008.10:g.118009748_118009749dup, NG_016991.1:g.52237_52238del, NG_016991.1:g.52238del, NG_016991.1:g.52238dup, NG_016991.1:g.52237_52238dup

Select item 14915183117.

rs1491518311 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:117015548 (GRCh38)
8:118027787 (GRCh37)
Canonical SPDI:: NC_000008.11:117015547:CA:
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000084/11 (GnomAD)
-=0.000212/4 (TOMMO)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000008.11:g.117015548_117015549del, NC_000008.10:g.118027787_118027788del, NG_016991.1:g.70276_70277del

Select item 14914882458.

rs1491488245 has merged into rs78495363 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 8:116976253 (GRCh38)
8:117988492 (GRCh37)
Canonical SPDI:: NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:116976242:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SLC30A8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.1246/624 (1000Genomes)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000008.11:g.116976253_116976258del, NC_000008.11:g.116976254_116976258del, NC_000008.11:g.116976255_116976258del, NC_000008.11:g.116976256_116976258del, NC_000008.11:g.116976257_116976258del, NC_000008.11:g.116976258del, NC_000008.11:g.116976258dup, NC_000008.11:g.116976257_116976258dup, NC_000008.11:g.116976256_116976258dup, NC_000008.10:g.117988492_117988497del, NC_000008.10:g.117988493_117988497del, NC_000008.10:g.117988494_117988497del, NC_000008.10:g.117988495_117988497del, NC_000008.10:g.117988496_117988497del, NC_000008.10:g.117988497del, NC_000008.10:g.117988497dup, NC_000008.10:g.117988496_117988497dup, NC_000008.10:g.117988495_117988497dup, NG_016991.1:g.30981_30986del, NG_016991.1:g.30982_30986del, NG_016991.1:g.30983_30986del, NG_016991.1:g.30984_30986del, NG_016991.1:g.30985_30986del, NG_016991.1:g.30986del, NG_016991.1:g.30986dup, NG_016991.1:g.30985_30986dup, NG_016991.1:g.30984_30986dup

Select item 14914871509.

rs1491487150 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:117018675 (GRCh38)
8:118030914 (GRCh37)
Canonical SPDI:: NC_000008.11:117018674:CT:
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000345/39 (GnomAD)
HGVS:: NC_000008.11:g.117018675_117018676del, NC_000008.10:g.118030914_118030915del, NG_016991.1:g.73403_73404del

Select item 149148202310.

rs1491482023 has merged into rs5894359 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 8:116997509 (GRCh38)
8:118009748 (GRCh37)
Canonical SPDI:: NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTT,NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTTT,NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:116997500:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00437/8 (Korea1K)
-=0.04265/203 (1000Genomes)
T=0.12081/541 (Estonian)
T=0.16343/606 (TWINSUK)
T=0.16866/650 (ALSPAC)
T=0.16934/169 (GoNL)
T=0.175/105 (NorthernSweden)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000008.11:g.116997509_116997510del, NC_000008.11:g.116997510del, NC_000008.11:g.116997510dup, NC_000008.11:g.116997509_116997510dup, NC_000008.10:g.118009748_118009749del, NC_000008.10:g.118009749del, NC_000008.10:g.118009749dup, NC_000008.10:g.118009748_118009749dup, NG_016991.1:g.52237_52238del, NG_016991.1:g.52238del, NG_016991.1:g.52238dup, NG_016991.1:g.52237_52238dup

Select item 149147444611.

rs1491474446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 8:117012722 (GRCh38)
8:118024962 (GRCh37)
Canonical SPDI:: NC_000008.11:117012722:A:ACA,NC_000008.11:117012722:A:ACACA,NC_000008.11:117012722:A:ACACACA,NC_000008.11:117012722:A:ACACACACA,NC_000008.11:117012722:A:ACACACACACA,NC_000008.11:117012722:A:ACACACACACACA,NC_000008.11:117012722:A:ACACACACACACACACA
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
ACACACACAC=0.00011/2 (TOMMO)
HGVS:: NC_000008.11:g.117012723_117012724insCA, NC_000008.11:g.117012723_117012724insCACA, NC_000008.11:g.117012724CA[3], NC_000008.11:g.117012724CA[4], NC_000008.11:g.117012724CA[5], NC_000008.11:g.117012724CA[6], NC_000008.11:g.117012724CA[8], NC_000008.10:g.118024962_118024963insCA, NC_000008.10:g.118024962_118024963insCACA, NC_000008.10:g.118024963CA[3], NC_000008.10:g.118024963CA[4], NC_000008.10:g.118024963CA[5], NC_000008.10:g.118024963CA[6], NC_000008.10:g.118024963CA[8], NG_016991.1:g.67451_67452insCA, NG_016991.1:g.67451_67452insCACA, NG_016991.1:g.67452CA[3], NG_016991.1:g.67452CA[4], NG_016991.1:g.67452CA[5], NG_016991.1:g.67452CA[6], NG_016991.1:g.67452CA[8]

Select item 149146931912.

rs1491469319 has merged into rs59464276 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:117153734 (GRCh38)
8:118165973 (GRCh37)
Canonical SPDI:: NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:117153723:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGT=0./0 (ALFA)
GT=0.1777/890 (1000Genomes)
HGVS:: NC_000008.11:g.117153724GT[5], NC_000008.11:g.117153724GT[7], NC_000008.11:g.117153724GT[8], NC_000008.11:g.117153724GT[9], NC_000008.11:g.117153724GT[10], NC_000008.11:g.117153724GT[11], NC_000008.11:g.117153724GT[12], NC_000008.11:g.117153724GT[13], NC_000008.11:g.117153724GT[14], NC_000008.11:g.117153724GT[15], NC_000008.11:g.117153724GT[17], NC_000008.11:g.117153724GT[18], NC_000008.11:g.117153724GT[19], NC_000008.11:g.117153724GT[20], NC_000008.11:g.117153724GT[21], NC_000008.11:g.117153724GT[22], NC_000008.11:g.117153724GT[23], NC_000008.11:g.117153724GT[24], NC_000008.11:g.117153724GT[25], NC_000008.10:g.118165963GT[5], NC_000008.10:g.118165963GT[7], NC_000008.10:g.118165963GT[8], NC_000008.10:g.118165963GT[9], NC_000008.10:g.118165963GT[10], NC_000008.10:g.118165963GT[11], NC_000008.10:g.118165963GT[12], NC_000008.10:g.118165963GT[13], NC_000008.10:g.118165963GT[14], NC_000008.10:g.118165963GT[15], NC_000008.10:g.118165963GT[17], NC_000008.10:g.118165963GT[18], NC_000008.10:g.118165963GT[19], NC_000008.10:g.118165963GT[20], NC_000008.10:g.118165963GT[21], NC_000008.10:g.118165963GT[22], NC_000008.10:g.118165963GT[23], NC_000008.10:g.118165963GT[24], NC_000008.10:g.118165963GT[25], NG_016991.1:g.208452GT[5], NG_016991.1:g.208452GT[7], NG_016991.1:g.208452GT[8], NG_016991.1:g.208452GT[9], NG_016991.1:g.208452GT[10], NG_016991.1:g.208452GT[11], NG_016991.1:g.208452GT[12], NG_016991.1:g.208452GT[13], NG_016991.1:g.208452GT[14], NG_016991.1:g.208452GT[15], NG_016991.1:g.208452GT[17], NG_016991.1:g.208452GT[18], NG_016991.1:g.208452GT[19], NG_016991.1:g.208452GT[20], NG_016991.1:g.208452GT[21], NG_016991.1:g.208452GT[22], NG_016991.1:g.208452GT[23], NG_016991.1:g.208452GT[24], NG_016991.1:g.208452GT[25]

Select item 149145140313.

rs1491451403 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:116979238 (GRCh38)
8:117991477 (GRCh37)
Canonical SPDI:: NC_000008.11:116979237:CA:
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.116979238_116979239del, NC_000008.10:g.117991477_117991478del, NG_016991.1:g.33966_33967del

Select item 149144709214.

rs1491447092 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:117097626 (GRCh38)
8:118109865 (GRCh37)
Canonical SPDI:: NC_000008.11:117097625:TT:
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00015/14 (GnomAD)
HGVS:: NC_000008.11:g.117097626_117097627del, NC_000008.10:g.118109865_118109866del, NG_016991.1:g.152354_152355del

Select item 149142840215.

rs1491428402 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>T [Show Flanks]
Chromosome:: 8:117036110 (GRCh38)
8:118048349 (GRCh37)
Canonical SPDI:: NC_000008.11:117036109:CC:T
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000008.11:g.117036110_117036111delinsT, NC_000008.10:g.118048349_118048350delinsT, NG_016991.1:g.90838_90839delinsT

Select item 149142643916.

rs1491426439 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:117097487 (GRCh38)
8:118109727 (GRCh37)
Canonical SPDI:: NC_000008.11:117097487:T:TT
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000008.11:g.117097488dup, NC_000008.10:g.118109727dup, NG_016991.1:g.152216dup

Select item 149141433117.

rs1491414331 has merged into rs67272812 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 8:117018672 (GRCh38)
8:118030911 (GRCh37)
Canonical SPDI:: NC_000008.11:117018663:CCCCCCCCCCCC:CCCCCCCC,NC_000008.11:117018663:CCCCCCCCCCCC:CCCCCCCCC,NC_000008.11:117018663:CCCCCCCCCCCC:CCCCCCCCCC,NC_000008.11:117018663:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000008.11:117018663:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:117018663:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000008.11:117018663:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000008.11:g.117018672_117018675del, NC_000008.11:g.117018673_117018675del, NC_000008.11:g.117018674_117018675del, NC_000008.11:g.117018675del, NC_000008.11:g.117018675dup, NC_000008.11:g.117018674_117018675dup, NC_000008.11:g.117018673_117018675dup, NC_000008.10:g.118030911_118030914del, NC_000008.10:g.118030912_118030914del, NC_000008.10:g.118030913_118030914del, NC_000008.10:g.118030914del, NC_000008.10:g.118030914dup, NC_000008.10:g.118030913_118030914dup, NC_000008.10:g.118030912_118030914dup, NG_016991.1:g.73400_73403del, NG_016991.1:g.73401_73403del, NG_016991.1:g.73402_73403del, NG_016991.1:g.73403del, NG_016991.1:g.73403dup, NG_016991.1:g.73402_73403dup, NG_016991.1:g.73401_73403dup

Select item 149141052818.

rs1491410528 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 8:117118192 (GRCh38)
8:118130432 (GRCh37)
Canonical SPDI:: NC_000008.11:117118192:A:AACA
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AACA=0./0 (ALFA)
AAC=0.000079/11 (GnomAD)
HGVS:: NC_000008.11:g.117118193_117118194insACA, NC_000008.10:g.118130432_118130433insACA, NG_016991.1:g.172921_172922insACA

Select item 149140122619.

rs1491401226 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 8:117097527 (GRCh38)
8:118109767 (GRCh37)
Canonical SPDI:: NC_000008.11:117097527::CA
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: CA=0.000164/17 (GnomAD)
HGVS:: NC_000008.11:g.117097527_117097528insCA, NC_000008.10:g.118109766_118109767insCA, NG_016991.1:g.152255_152256insCA

Select item 149136401320.

rs1491364013 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 8:117006985 (GRCh38)
8:118019224 (GRCh37)
Canonical SPDI:: NC_000008.11:117006983:TCT:T,NC_000008.11:117006983:TCT:TCTCT
Gene:: SLC30A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02706/321 (ALFA)
-=0.04214/626 (TOMMO)
HGVS:: NC_000008.11:g.117006985_117006986del, NC_000008.11:g.117006985_117006986dup, NC_000008.10:g.118019224_118019225del, NC_000008.10:g.118019224_118019225dup, NG_016991.1:g.61713_61714del, NG_016991.1:g.61713_61714dup

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