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rs121908295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908295(C;G)
Make rs121908295(G;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155205499
GeneGBA
is asnp
is mentioned by
dbSNPrs121908295
ebirs121908295
HLIrs121908295
Exacrs121908295
Varsomers121908295
Maprs121908295
PheGenIrs121908295
hapmaprs121908295
1000 genomesrs121908295
hgdprs121908295
ensemblrs121908295
gopubmedrs121908295
geneviewrs121908295
scholarrs121908295
googlers121908295
pharmgkbrs121908295
gwascentralrs121908295
openSNPrs121908295
23andMers121908295
23andMe allrs121908295
SNP Nexus

SNPshotrs121908295
SNPdbers121908295
MSV3drs121908295
GWAS Ctlgrs121908295
Max Magnitude0
OMIM606463
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908295(G;G)
Alt rs121908295(G;G)
Reference rs121908295(C;C)
Significance Pathogenic
Disease Acute neuronopathic Gaucher's disease
Variation info
Gene GBA
CLNDBN Acute neuronopathic Gaucher's disease
Reversed 1
HGVS NC_000001.10:g.155205499G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004514.4,