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rs79653797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs79653797(A;A)
Make rs79653797(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position155208420
GeneGBA
is asnp
is mentioned by
dbSNPrs79653797
ebirs79653797
HLIrs79653797
Exacrs79653797
Varsomers79653797
Maprs79653797
PheGenIrs79653797
hapmaprs79653797
1000 genomesrs79653797
hgdprs79653797
ensemblrs79653797
gopubmedrs79653797
geneviewrs79653797
scholarrs79653797
googlers79653797
pharmgkbrs79653797
gwascentralrs79653797
openSNPrs79653797
23andMers79653797
23andMe allrs79653797
SNP Nexus

SNPshotrs79653797
SNPdbers79653797
MSV3drs79653797
GWAS Ctlgrs79653797
Max Magnitude0
OMIM606463
Desc
Variant0004
Relatedalso
ClinVar
Risk rs79653797(A,C;A,C)
Alt rs79653797(A,C;A,C)
Reference rs79653797(G;G)
Significance Pathogenic
Disease Gaucher's disease Gaucher disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Gaucher disease, perinatal lethal Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155208420C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004518.4, RCV000004519.4, RCV000020154.1,