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rs147138516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147138516(C;G)
Make rs147138516(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position155238570
GeneGBA
is asnp
is mentioned by
dbSNPrs147138516
ebirs147138516
HLIrs147138516
Exacrs147138516
Varsomers147138516
Maprs147138516
PheGenIrs147138516
hapmaprs147138516
1000 genomesrs147138516
hgdprs147138516
ensemblrs147138516
gopubmedrs147138516
geneviewrs147138516
scholarrs147138516
googlers147138516
pharmgkbrs147138516
gwascentralrs147138516
openSNPrs147138516
23andMers147138516
23andMe allrs147138516
SNP Nexus

SNPshotrs147138516
SNPdbers147138516
MSV3drs147138516
GWAS Ctlgrs147138516
Max Magnitude0
ClinVar
Risk rs147138516(G;G)
Alt rs147138516(G;G)
Reference rs147138516(C;C)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 0
HGVS NC_000001.10:g.155208361C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004538.4,