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rs121908314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908314(C;G)
Make rs121908314(G;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155205632
GeneGBA
is asnp
is mentioned by
dbSNPrs121908314
ebirs121908314
HLIrs121908314
Exacrs121908314
Varsomers121908314
Maprs121908314
PheGenIrs121908314
hapmaprs121908314
1000 genomesrs121908314
hgdprs121908314
ensemblrs121908314
gopubmedrs121908314
geneviewrs121908314
scholarrs121908314
googlers121908314
pharmgkbrs121908314
gwascentralrs121908314
openSNPrs121908314
23andMers121908314
23andMe allrs121908314
SNP Nexus

SNPshotrs121908314
SNPdbers121908314
MSV3drs121908314
GWAS Ctlgrs121908314
Max Magnitude0
OMIM606463
Desc
Variant0045
Relatedalso
ClinVar
Risk rs121908314(G;G)
Alt rs121908314(G;G)
Reference rs121908314(C;C)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155205632G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004578.2,