rs28937890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28937890(C;T) |
Make rs28937890(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 6301966 |
Gene | WFS1 |
is a | snp |
is | mentioned by |
dbSNP | rs28937890 |
dbSNP (classic) | rs28937890 |
ClinGen | rs28937890 |
ebi | rs28937890 |
HLI | rs28937890 |
Exac | rs28937890 |
Gnomad | rs28937890 |
Varsome | rs28937890 |
LitVar | rs28937890 |
Map | rs28937890 |
PheGenI | rs28937890 |
Biobank | rs28937890 |
1000 genomes | rs28937890 |
hgdp | rs28937890 |
ensembl | rs28937890 |
geneview | rs28937890 |
scholar | rs28937890 |
rs28937890 | |
pharmgkb | rs28937890 |
gwascentral | rs28937890 |
openSNP | rs28937890 |
23andMe | rs28937890 |
SNPshot | rs28937890 |
SNPdbe | rs28937890 |
MSV3d | rs28937890 |
GWAS Ctlg | rs28937890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28937890(T;T) |
Alt | rs28937890(T;T) |
Reference | Rs28937890(C;C) |
Significance | Pathogenic |
Disease | Diabetes mellitus AND insipidus with optic atrophy AND deafness |
Variation | info |
Gene | WFS1 |
CLNDBN | Diabetes mellitus AND insipidus with optic atrophy AND deafness |
Reversed | 0 |
HGVS | NC_000004.11:g.6303693C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004767.3, |