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rs747506979

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs747506979(A;A)
Make rs747506979(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs747506979
ebirs747506979
HLIrs747506979
Exacrs747506979
Varsomers747506979
Maprs747506979
PheGenIrs747506979
hapmaprs747506979
1000 genomesrs747506979
hgdprs747506979
ensemblrs747506979
gopubmedrs747506979
geneviewrs747506979
scholarrs747506979
googlers747506979
pharmgkbrs747506979
gwascentralrs747506979
openSNPrs747506979
23andMers747506979
23andMe allrs747506979
SNP Nexus

SNPshotrs747506979
SNPdbers747506979
MSV3drs747506979
GWAS Ctlgrs747506979
Max Magnitude0
ClinVar
Risk rs747506979(A;A)
Alt rs747506979(A;A)
Reference rs747506979(G;G)
Significance Probable-Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 0
HGVS NC_000001.10:g.155204794G>A
CLNSRC
CLNACC RCV000225494.1,