rs672601311
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs672601311(C;G) |
Make rs672601311(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 50490450 |
Gene | USP8 |
is a | snp |
is | mentioned by |
dbSNP | rs672601311 |
dbSNP (classic) | rs672601311 |
ClinGen | rs672601311 |
ebi | rs672601311 |
HLI | rs672601311 |
Exac | rs672601311 |
Gnomad | rs672601311 |
Varsome | rs672601311 |
LitVar | rs672601311 |
Map | rs672601311 |
PheGenI | rs672601311 |
Biobank | rs672601311 |
1000 genomes | rs672601311 |
hgdp | rs672601311 |
ensembl | rs672601311 |
geneview | rs672601311 |
scholar | rs672601311 |
rs672601311 | |
pharmgkb | rs672601311 |
gwascentral | rs672601311 |
openSNP | rs672601311 |
23andMe | rs672601311 |
SNPshot | rs672601311 |
SNPdbe | rs672601311 |
MSV3d | rs672601311 |
GWAS Ctlg | rs672601311 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601311(G;G) |
Alt | rs672601311(G;G) |
Reference | Rs672601311(C;C) |
Significance | Pathogenic |
Disease | Pituitary dependent hypercortisolism |
Variation | info |
Gene | USP8 |
CLNDBN | Pituitary dependent hypercortisolism |
Reversed | 0 |
HGVS | NC_000015.9:g.50782647C>G |
CLNSRC | |
CLNACC | RCV000149420.1, |