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rs794727708

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727708(G;G)
Make rs794727708(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs794727708
ebirs794727708
HLIrs794727708
Exacrs794727708
Varsomers794727708
Maprs794727708
PheGenIrs794727708
hapmaprs794727708
1000 genomesrs794727708
hgdprs794727708
ensemblrs794727708
gopubmedrs794727708
geneviewrs794727708
scholarrs794727708
googlers794727708
pharmgkbrs794727708
gwascentralrs794727708
openSNPrs794727708
23andMers794727708
23andMe allrs794727708
SNP Nexus

SNPshotrs794727708
SNPdbers794727708
MSV3drs794727708
GWAS Ctlgrs794727708
Max Magnitude0
ClinVar
Risk rs794727708(G;G)
Alt rs794727708(G;G)
Reference rs794727708(T;T)
Significance Probable-Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155209430A>C
CLNSRC
CLNACC RCV000178813.1,