SNP Links for Gene (Select 7466) - SNP

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Select item 14915337781.

rs1491533778 has merged into rs1281207170 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 4:6299659 (GRCh38)
4:6301386 (GRCh37)
Canonical SPDI:: NC_000004.12:6299653:TGTGTGTGT:TGTGT,NC_000004.12:6299653:TGTGTGTGT:TGTGTGT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.00019/3 (TOMMO)
HGVS:: NC_000004.12:g.6299655GT[2], NC_000004.12:g.6299655GT[3], NC_000004.11:g.6301382GT[2], NC_000004.11:g.6301382GT[3], NG_011700.1:g.34806GT[2], NG_011700.1:g.34806GT[3]

Select item 14915133952.

rs1491513395 has merged into rs113629797 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT [Show Flanks]
Chromosome:: 4:6299909 (GRCh38)
4:6301636 (GRCh37)
Canonical SPDI:: NC_000004.12:6299901:TGTGTGTGTGTGT:TGTGTGT,NC_000004.12:6299901:TGTGTGTGTGTGT:TGTGTGTGT,NC_000004.12:6299901:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000004.12:6299901:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
TG=0.02024/323 (TOMMO)
TG=0.11881/595 (1000Genomes)
TG=0.2/8 (GENOME_DK)
TG=0.28479/1056 (TWINSUK)
TG=0.35638/201 (NorthernSweden)
HGVS:: NC_000004.12:g.6299903GT[3], NC_000004.12:g.6299903GT[4], NC_000004.12:g.6299903GT[5], NC_000004.12:g.6299903GT[7], NC_000004.11:g.6301630GT[3], NC_000004.11:g.6301630GT[4], NC_000004.11:g.6301630GT[5], NC_000004.11:g.6301630GT[7], NG_011700.1:g.35054GT[3], NG_011700.1:g.35054GT[4], NG_011700.1:g.35054GT[5], NG_011700.1:g.35054GT[7]

Select item 14915038913.

rs1491503891 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 4:6302825 (GRCh38)
4:6304552 (GRCh37)
Canonical SPDI:: NC_000004.12:6302822:CTCT:CT,NC_000004.12:6302822:CTCT:CTCTCT
Gene:: WFS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.6302823CT[1], NC_000004.12:g.6302823CT[3], NC_000004.11:g.6304550CT[1], NC_000004.11:g.6304550CT[3], NG_011700.1:g.37974CT[1], NG_011700.1:g.37974CT[3], NM_006005.3:c.*355CT[1], NM_006005.3:c.*355CT[3], NM_001145853.1:c.*355CT[1], NM_001145853.1:c.*355CT[3]

Select item 14914956914.

rs1491495691 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 4:6289289 (GRCh38)
4:6291017 (GRCh37)
Canonical SPDI:: NC_000004.12:6289289:T:TTTT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.6289290_6289291insTTT, NC_000004.11:g.6291017_6291018insTTT, NG_011700.1:g.24441_24442insTTT

Select item 14914714045.

rs1491471404 has merged into rs1206028909 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 4:6299587 (GRCh38)
4:6301314 (GRCh37)
Canonical SPDI:: NC_000004.12:6299581:TGTGTGTGT:TGTGT,NC_000004.12:6299581:TGTGTGTGT:TGTGTGT,NC_000004.12:6299581:TGTGTGTGT:TGTGTGTGTGT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGT=0./0 (ALFA)
-=0.00031/7 (GnomAD)
HGVS:: NC_000004.12:g.6299583GT[2], NC_000004.12:g.6299583GT[3], NC_000004.12:g.6299583GT[5], NC_000004.11:g.6301310GT[2], NC_000004.11:g.6301310GT[3], NC_000004.11:g.6301310GT[5], NG_011700.1:g.34734GT[2], NG_011700.1:g.34734GT[3], NG_011700.1:g.34734GT[5]

Select item 14914626726.

rs1491462672 has merged into rs35994107 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTAAGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTGT,GTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 4:6299554 (GRCh38)
4:6301281 (GRCh37)
Canonical SPDI:: NC_000004.12:6299548:TGTGTGTGT:TGTGT,NC_000004.12:6299548:TGTGTGTGT:TGTGTGT,NC_000004.12:6299548:TGTGTGTGT:TGTGTGTGTGT,NC_000004.12:6299548:TGTGTGTGT:TGTGTGTGTGTAAGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTGT,NC_000004.12:6299548:TGTGTGTGT:TGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTGT,NC_000004.12:6299548:TGTGTGTGT:TGTGTGTGTGTGT,NC_000004.12:6299548:TGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
TG=0.0357/10 (NorthernSweden)
-=0.1981/992 (1000Genomes)
-=0.275/11 (GENOME_DK)
-=0.3595/1333 (TWINSUK)
-=0.3651/1407 (ALSPAC)
HGVS:: NC_000004.12:g.6299550GT[2], NC_000004.12:g.6299550GT[3], NC_000004.12:g.6299550GT[5], NC_000004.12:g.6299549_6299557TG[5]TAAGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTGT[1], NC_000004.12:g.6299549_6299557TG[5]TAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTGT[1], NC_000004.12:g.6299550GT[6], NC_000004.12:g.6299550GT[7], NC_000004.11:g.6301277GT[2], NC_000004.11:g.6301277GT[3], NC_000004.11:g.6301277GT[5], NC_000004.11:g.6301276_6301284TG[5]TAAGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTGT[1], NC_000004.11:g.6301276_6301284TG[5]TAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTGT[1], NC_000004.11:g.6301277GT[6], NC_000004.11:g.6301277GT[7], NG_011700.1:g.34701GT[2], NG_011700.1:g.34701GT[3], NG_011700.1:g.34701GT[5], NG_011700.1:g.34700_34708TG[5]TAAGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTGT[1], NG_011700.1:g.34700_34708TG[5]TAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTGT[1], NG_011700.1:g.34701GT[6], NG_011700.1:g.34701GT[7]

Select item 14914439467.

rs1491443946 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCT,GGT,GT [Show Flanks]
Chromosome:: 4:6299600 (GRCh38)
4:6301328 (GRCh37)
Canonical SPDI:: NC_000004.12:6299600:T:TGCT,NC_000004.12:6299600:T:TGGT,NC_000004.12:6299600:T:TGT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCT=0./0 (ALFA)
TG=0./0 (GnomAD)
HGVS:: NC_000004.12:g.6299601_6299602insGCT, NC_000004.12:g.6299601_6299602insGGT, NC_000004.12:g.6299601_6299602insGT, NC_000004.11:g.6301328_6301329insGCT, NC_000004.11:g.6301328_6301329insGGT, NC_000004.11:g.6301328_6301329insGT, NG_011700.1:g.34752_34753insGCT, NG_011700.1:g.34752_34753insGGT, NG_011700.1:g.34752_34753insGT

Select item 14913538668.

rs1491353866 has merged into rs72598383 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 4:6261489 (GRCh38)
4:6263216 (GRCh37)
Canonical SPDI:: NC_000004.12:6261482:AAAAAAAAAAA:AAAAAA,NC_000004.12:6261482:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:6261482:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:6261482:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:6261482:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6261482:AAAAAAAAAAA:AAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2378/1191 (1000Genomes)
-=0.275/11 (GENOME_DK)
-=0.4364/254 (NorthernSweden)
HGVS:: NC_000004.12:g.6261489_6261493del, NC_000004.12:g.6261492_6261493del, NC_000004.12:g.6261493del, NC_000004.12:g.6261493dup, NC_000004.12:g.6261492_6261493dup, NC_000004.12:g.6261489_6261493dup, NC_000004.11:g.6263216_6263220del, NC_000004.11:g.6263219_6263220del, NC_000004.11:g.6263220del, NC_000004.11:g.6263220dup, NC_000004.11:g.6263219_6263220dup, NC_000004.11:g.6263216_6263220dup

Select item 14913538319.

rs1491353831 has merged into rs1281919592 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 4:6299786 (GRCh38)
4:6301513 (GRCh37)
Canonical SPDI:: NC_000004.12:6299778:TGTGTGTGT:TGTGTGT,NC_000004.12:6299778:TGTGTGTGT:TGTGTGTGTGT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.6299780GT[3], NC_000004.12:g.6299780GT[5], NC_000004.11:g.6301507GT[3], NC_000004.11:g.6301507GT[5], NG_011700.1:g.34931GT[3], NG_011700.1:g.34931GT[5]

Select item 149132522310.

rs1491325223 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:6299901 (GRCh38)
4:6301628 (GRCh37)
Canonical SPDI:: NC_000004.12:6299900:TT:
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
HGVS:: NC_000004.12:g.6299901_6299902del, NC_000004.11:g.6301628_6301629del, NG_011700.1:g.35052_35053del

Select item 149132051211.

rs1491320512 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:6289289 (GRCh38)
4:6291016 (GRCh37)
Canonical SPDI:: NC_000004.12:6289288:CT:
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.6289289_6289290del, NC_000004.11:g.6291016_6291017del, NG_011700.1:g.24440_24441del

Select item 149129664412.

rs1491296644 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:6299880 (GRCh38)
4:6301607 (GRCh37)
Canonical SPDI:: NC_000004.12:6299879:AT:
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.6299880_6299881del, NC_000004.11:g.6301607_6301608del, NG_011700.1:g.35031_35032del

Select item 149123806213.

rs1491238062 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:6274056 (GRCh38)
4:6275783 (GRCh37)
Canonical SPDI:: NC_000004.12:6274054:TCT:T
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00109/7 (1000Genomes)
-=0.0014/126 (GnomAD)
-=0.00209/29 (TOMMO)
HGVS:: NC_000004.12:g.6274056_6274057del, NC_000004.11:g.6275783_6275784del, NG_011700.1:g.9207_9208del

Select item 149122363014.

rs1491223630 [Homo sapiens]

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

Select item 149119337615.

rs1491193376 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:6299523 (GRCh38)
4:6301250 (GRCh37)
Canonical SPDI:: NC_000004.12:6299522:AT:
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.6299523_6299524del, NC_000004.11:g.6301250_6301251del, NG_011700.1:g.34674_34675del

Select item 149111481016.

rs1491114810 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:6299581 (GRCh38)
4:6301308 (GRCh37)
Canonical SPDI:: NC_000004.12:6299580:AT:
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/1 (GnomAD)
HGVS:: NC_000004.12:g.6299581_6299582del, NC_000004.11:g.6301308_6301309del, NG_011700.1:g.34732_34733del

Select item 149111237817.

rs1491112378 has merged into rs1322217710 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TTTT [Show Flanks]
Chromosome:: 4:6299600 (GRCh38)
4:6301327 (GRCh37)
Canonical SPDI:: NC_000004.12:6299599:TTT:TT,NC_000004.12:6299599:TTT:TTTTTT
Gene:: WFS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.00042/5 (ALFA)
HGVS:: NC_000004.12:g.6299602del, NC_000004.12:g.6299600_6299602dup, NC_000004.11:g.6301329del, NC_000004.11:g.6301327_6301329dup, NG_011700.1:g.34753del, NG_011700.1:g.34751_34753dup

Select item 149109037918.

rs1491090379 [Homo sapiens]

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

Select item 149108645219.

rs1491086452 has merged into rs5855904 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:6259800 (GRCh38)
4:6261527 (GRCh37)
Canonical SPDI:: NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:6259788:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.6259800_6259809del, NC_000004.12:g.6259801_6259809del, NC_000004.12:g.6259802_6259809del, NC_000004.12:g.6259803_6259809del, NC_000004.12:g.6259804_6259809del, NC_000004.12:g.6259805_6259809del, NC_000004.12:g.6259806_6259809del, NC_000004.12:g.6259807_6259809del, NC_000004.12:g.6259808_6259809del, NC_000004.12:g.6259809del, NC_000004.12:g.6259809dup, NC_000004.12:g.6259808_6259809dup, NC_000004.12:g.6259807_6259809dup, NC_000004.12:g.6259806_6259809dup, NC_000004.12:g.6259805_6259809dup, NC_000004.12:g.6259804_6259809dup, NC_000004.11:g.6261527_6261536del, NC_000004.11:g.6261528_6261536del, NC_000004.11:g.6261529_6261536del, NC_000004.11:g.6261530_6261536del, NC_000004.11:g.6261531_6261536del, NC_000004.11:g.6261532_6261536del, NC_000004.11:g.6261533_6261536del, NC_000004.11:g.6261534_6261536del, NC_000004.11:g.6261535_6261536del, NC_000004.11:g.6261536del, NC_000004.11:g.6261536dup, NC_000004.11:g.6261535_6261536dup, NC_000004.11:g.6261534_6261536dup, NC_000004.11:g.6261533_6261536dup, NC_000004.11:g.6261532_6261536dup, NC_000004.11:g.6261531_6261536dup

Select item 149106664520.

rs1491066645 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTCTTTTGTGTTGGATTTGTTTAA [Show Flanks]
Chromosome:: 4:6302828 (GRCh38)
4:6304556 (GRCh37)
Canonical SPDI:: NC_000004.12:6302828:CTTTCTTTTGTGTTGGATTTGTTTAA:CTTTCTTTTGTGTTGGATTTGTTTAACTTTCTTTTGTGTTGGATTTGTTTAA
Gene:: WFS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTTGTGTTGGATTTGTTTAACTTTCTTTTGTGTTGGATTTGTTTAA=0.000071/1 (ALFA)
CTTTCTTTTGTGTTGGATTTGTTTAA=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.6302829_6302854dup, NC_000004.11:g.6304556_6304581dup, NG_011700.1:g.37980_38005dup, NM_006005.3:c.*361_*386dup, NM_001145853.1:c.*361_*386dup

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