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rs672601310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs672601310(A;G)
Make rs672601310(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position50490441
GeneUSP8
is asnp
is mentioned by
dbSNPrs672601310
dbSNP (classic)rs672601310
ClinGenrs672601310
ebirs672601310
HLIrs672601310
Exacrs672601310
Gnomadrs672601310
Varsomers672601310
LitVarrs672601310
Maprs672601310
PheGenIrs672601310
Biobankrs672601310
1000 genomesrs672601310
hgdprs672601310
ensemblrs672601310
geneviewrs672601310
scholarrs672601310
googlers672601310
pharmgkbrs672601310
gwascentralrs672601310
openSNPrs672601310
23andMers672601310
SNPshotrs672601310
SNPdbers672601310
MSV3drs672601310
GWAS Ctlgrs672601310
Max Magnitude0
ClinVar
Risk rs672601310(G;G) rs672601310(T;T)
Alt rs672601310(G;G) rs672601310(T;T)
Reference Rs672601310(A;A)
Significance Pathogenic
Disease Pituitary dependent hypercortisolism
Variation info
Gene USP8
CLNDBN Pituitary dependent hypercortisolism
Reversed 0
HGVS NC_000015.9:g.50782638A>G
CLNSRC
CLNACC RCV000149419.1,