rs71524377
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs71524377(A;A) |
Make rs71524377(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 6301914 |
Gene | WFS1 |
is a | snp |
is | mentioned by |
dbSNP | rs71524377 |
dbSNP (classic) | rs71524377 |
ClinGen | rs71524377 |
ebi | rs71524377 |
HLI | rs71524377 |
Exac | rs71524377 |
Gnomad | rs71524377 |
Varsome | rs71524377 |
LitVar | rs71524377 |
Map | rs71524377 |
PheGenI | rs71524377 |
Biobank | rs71524377 |
1000 genomes | rs71524377 |
hgdp | rs71524377 |
ensembl | rs71524377 |
geneview | rs71524377 |
scholar | rs71524377 |
rs71524377 | |
pharmgkb | rs71524377 |
gwascentral | rs71524377 |
openSNP | rs71524377 |
23andMe | rs71524377 |
SNPshot | rs71524377 |
SNPdbe | rs71524377 |
MSV3d | rs71524377 |
GWAS Ctlg | rs71524377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs71524377(A;A) rs71524377(T;T) |
Alt | rs71524377(A;A) rs71524377(T;T) |
Reference | Rs71524377(G;G) |
Significance | Pathogenic |
Disease | not specified Diabetes mellitus AND insipidus with optic atrophy AND deafness |
Variation | info |
Gene | WFS1 |
CLNDBN | not specified Diabetes mellitus AND insipidus with optic atrophy AND deafness |
Reversed | 0 |
HGVS | NC_000004.11:g.6303641G>A; NC_000004.11:g.6303641G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000200753.2, RCV000023510.4, |