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rs121908304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908304(G;T)
Make rs121908304(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155206207
GeneGBA
is asnp
is mentioned by
dbSNPrs121908304
ebirs121908304
HLIrs121908304
Exacrs121908304
Varsomers121908304
Maprs121908304
PheGenIrs121908304
hapmaprs121908304
1000 genomesrs121908304
hgdprs121908304
ensemblrs121908304
gopubmedrs121908304
geneviewrs121908304
scholarrs121908304
googlers121908304
pharmgkbrs121908304
gwascentralrs121908304
openSNPrs121908304
23andMers121908304
23andMe allrs121908304
SNP Nexus

SNPshotrs121908304
SNPdbers121908304
MSV3drs121908304
GWAS Ctlgrs121908304
Max Magnitude0
OMIM606463
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121908304(T;T)
Alt rs121908304(T;T)
Reference rs121908304(G;G)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155206207C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004561.4,