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rs121908298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908298(C;T)
Make rs121908298(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155207148
GeneGBA
is asnp
is mentioned by
dbSNPrs121908298
ebirs121908298
HLIrs121908298
Exacrs121908298
Varsomers121908298
Maprs121908298
PheGenIrs121908298
hapmaprs121908298
1000 genomesrs121908298
hgdprs121908298
ensemblrs121908298
gopubmedrs121908298
geneviewrs121908298
scholarrs121908298
googlers121908298
pharmgkbrs121908298
gwascentralrs121908298
openSNPrs121908298
23andMers121908298
23andMe allrs121908298
SNP Nexus

SNPshotrs121908298
SNPdbers121908298
MSV3drs121908298
GWAS Ctlgrs121908298
Max Magnitude0
OMIM606463
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908298(T;T)
Alt rs121908298(T;T)
Reference rs121908298(C;C)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155207148G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004547.4,