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rs672601311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs672601311(C;G)
Make rs672601311(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position50490450
GeneUSP8
is asnp
is mentioned by
dbSNPrs672601311
dbSNP (classic)rs672601311
ClinGenrs672601311
ebirs672601311
HLIrs672601311
Exacrs672601311
Gnomadrs672601311
Varsomers672601311
LitVarrs672601311
Maprs672601311
PheGenIrs672601311
Biobankrs672601311
1000 genomesrs672601311
hgdprs672601311
ensemblrs672601311
geneviewrs672601311
scholarrs672601311
googlers672601311
pharmgkbrs672601311
gwascentralrs672601311
openSNPrs672601311
23andMers672601311
SNPshotrs672601311
SNPdbers672601311
MSV3drs672601311
GWAS Ctlgrs672601311
Max Magnitude0
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,