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rs121908310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908310(G;T)
Make rs121908310(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155205551
GeneGBA
is asnp
is mentioned by
dbSNPrs121908310
ebirs121908310
HLIrs121908310
Exacrs121908310
Varsomers121908310
Maprs121908310
PheGenIrs121908310
hapmaprs121908310
1000 genomesrs121908310
hgdprs121908310
ensemblrs121908310
gopubmedrs121908310
geneviewrs121908310
scholarrs121908310
googlers121908310
pharmgkbrs121908310
gwascentralrs121908310
openSNPrs121908310
23andMers121908310
23andMe allrs121908310
SNP Nexus

SNPshotrs121908310
SNPdbers121908310
MSV3drs121908310
GWAS Ctlgrs121908310
Max Magnitude0
OMIM606463
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121908310(T;T)
Alt rs121908310(T;T)
Reference rs121908310(G;G)
Significance Pathogenic
Disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher disease, perinatal lethal
Reversed 1
HGVS NC_000001.10:g.155205551C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004544.2,