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rs121908305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908305(A;A)
Make rs121908305(A;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155206170
GeneGBA
is asnp
is mentioned by
dbSNPrs121908305
ebirs121908305
HLIrs121908305
Exacrs121908305
Varsomers121908305
Maprs121908305
PheGenIrs121908305
hapmaprs121908305
1000 genomesrs121908305
hgdprs121908305
ensemblrs121908305
gopubmedrs121908305
geneviewrs121908305
scholarrs121908305
googlers121908305
pharmgkbrs121908305
gwascentralrs121908305
openSNPrs121908305
23andMers121908305
23andMe allrs121908305
SNP Nexus

SNPshotrs121908305
SNPdbers121908305
MSV3drs121908305
GWAS Ctlgrs121908305
Max Magnitude0
OMIM606463
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121908305(A;A)
Alt rs121908305(A;A)
Reference rs121908305(G;G)
Significance Pathogenic
Disease Acute neuronopathic Gaucher's disease not provided Gaucher's disease
Variation info
Gene GBA
CLNDBN Acute neuronopathic Gaucher's disease not provided Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155206170C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004562.2, RCV000079331.3, RCV000180535.1,