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rs121908302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 3 Carrier of a Gaucher disease mutation
Make rs121908302(T;T)
ReferenceGRCh37 37.1/132
Chromosome1
Position155240033
GeneGBA
is asnp
is mentioned by
dbSNPrs121908302
dbSNP (classic)rs121908302
ClinGenrs121908302
ebirs121908302
HLIrs121908302
Exacrs121908302
Gnomadrs121908302
Varsomers121908302
LitVarrs121908302
Maprs121908302
PheGenIrs121908302
Biobankrs121908302
1000 genomesrs121908302
hgdprs121908302
ensemblrs121908302
geneviewrs121908302
scholarrs121908302
googlers121908302
pharmgkbrs121908302
gwascentralrs121908302
openSNPrs121908302
23andMers121908302
SNPshotrs121908302
SNPdbers121908302
MSV3drs121908302
GWAS Ctlgrs121908302
Max Magnitude3
OMIM606463
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121908302(T;T)
Alt rs121908302(T;T)
Reference Rs121908302(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.155209824C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004556.5,