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rs121908312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908312(C;C)
Make rs121908312(C;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155209507
GeneGBA
is asnp
is mentioned by
dbSNPrs121908312
ebirs121908312
HLIrs121908312
Exacrs121908312
Varsomers121908312
Maprs121908312
PheGenIrs121908312
hapmaprs121908312
1000 genomesrs121908312
hgdprs121908312
ensemblrs121908312
gopubmedrs121908312
geneviewrs121908312
scholarrs121908312
googlers121908312
pharmgkbrs121908312
gwascentralrs121908312
openSNPrs121908312
23andMers121908312
23andMe allrs121908312
SNP Nexus

SNPshotrs121908312
SNPdbers121908312
MSV3drs121908312
GWAS Ctlgrs121908312
Max Magnitude0
OMIM606463
Desc
Variant0043
Relatedalso
ClinVar
Risk rs121908312(C;C)
Alt rs121908312(C;C)
Reference rs121908312(G;G)
Significance Pathogenic
Disease Gaucher's disease Subacute neuronopathic Gaucher's disease not provided
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Subacute neuronopathic Gaucher's disease not provided
Reversed 1
HGVS NC_000001.10:g.155209507C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004575.3, RCV000004576.2, RCV000079344.3,