rs587776598
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776598(-;GGCCGTCGCGAGGCTG) |
Make rs587776598(GGCCGTCGCGAGGCTG;GGCCGTCGCGAGGCTG) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 6289095 |
Gene | WFS1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776598 |
dbSNP (classic) | rs587776598 |
ClinGen | rs587776598 |
ebi | rs587776598 |
HLI | rs587776598 |
Exac | rs587776598 |
Gnomad | rs587776598 |
Varsome | rs587776598 |
LitVar | rs587776598 |
Map | rs587776598 |
PheGenI | rs587776598 |
Biobank | rs587776598 |
1000 genomes | rs587776598 |
hgdp | rs587776598 |
ensembl | rs587776598 |
geneview | rs587776598 |
scholar | rs587776598 |
rs587776598 | |
pharmgkb | rs587776598 |
gwascentral | rs587776598 |
openSNP | rs587776598 |
23andMe | rs587776598 |
SNPshot | rs587776598 |
SNPdbe | rs587776598 |
MSV3d | rs587776598 |
GWAS Ctlg | rs587776598 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776598(GGCCGTCGCGAGGCTG;GGCCGTCGCGAGGCTG) rs587776598(GGGCCGTCGCGAGGCT;GGGCCGTCGCGAGGCT) |
Alt | rs587776598(GGCCGTCGCGAGGCTG;GGCCGTCGCGAGGCTG) rs587776598(GGGCCGTCGCGAGGCT;GGGCCGTCGCGAGGCT) |
Reference | Rs587776598(-;-) |
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.6290807_6290822dup16 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004777.4, |