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rs121908307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908307(C;C)
Make rs121908307(C;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155206052
GeneGBA
is asnp
is mentioned by
dbSNPrs121908307
ebirs121908307
HLIrs121908307
Exacrs121908307
Varsomers121908307
Maprs121908307
PheGenIrs121908307
hapmaprs121908307
1000 genomesrs121908307
hgdprs121908307
ensemblrs121908307
gopubmedrs121908307
geneviewrs121908307
scholarrs121908307
googlers121908307
pharmgkbrs121908307
gwascentralrs121908307
openSNPrs121908307
23andMers121908307
23andMe allrs121908307
SNP Nexus

SNPshotrs121908307
SNPdbers121908307
MSV3drs121908307
GWAS Ctlgrs121908307
Max Magnitude0
OMIM606463
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121908307(C;C)
Alt rs121908307(C;C)
Reference rs121908307(G;G)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155206052C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004564.4,