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rs121908299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908299(C;T)
Make rs121908299(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155208415
GeneGBA
is asnp
is mentioned by
dbSNPrs121908299
ebirs121908299
HLIrs121908299
Exacrs121908299
Varsomers121908299
Maprs121908299
PheGenIrs121908299
hapmaprs121908299
1000 genomesrs121908299
hgdprs121908299
ensemblrs121908299
gopubmedrs121908299
geneviewrs121908299
scholarrs121908299
googlers121908299
pharmgkbrs121908299
gwascentralrs121908299
openSNPrs121908299
23andMers121908299
23andMe allrs121908299
SNP Nexus

SNPshotrs121908299
SNPdbers121908299
MSV3drs121908299
GWAS Ctlgrs121908299
Max Magnitude0
OMIM606463
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908299(T;T)
Alt rs121908299(T;T)
Reference rs121908299(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.155208415G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004550.4,