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rs121908308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908308(C;G)
Make rs121908308(G;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155206086
GeneGBA
is asnp
is mentioned by
dbSNPrs121908308
ebirs121908308
HLIrs121908308
Exacrs121908308
Varsomers121908308
Maprs121908308
PheGenIrs121908308
hapmaprs121908308
1000 genomesrs121908308
hgdprs121908308
ensemblrs121908308
gopubmedrs121908308
geneviewrs121908308
scholarrs121908308
googlers121908308
pharmgkbrs121908308
gwascentralrs121908308
openSNPrs121908308
23andMers121908308
23andMe allrs121908308
SNP Nexus

SNPshotrs121908308
SNPdbers121908308
MSV3drs121908308
GWAS Ctlgrs121908308
Max Magnitude0
OMIM606463
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121908308(G;G)
Alt rs121908308(G;G)
Reference rs121908308(C;C)
Significance Pathogenic
Disease Subacute neuronopathic Gaucher's disease
Variation info
Gene GBA
CLNDBN Subacute neuronopathic Gaucher's disease
Reversed 1
HGVS NC_000001.10:g.155206086G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004567.4,