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rs78973108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78973108(C;T)
Make rs78973108(T;T)
ReferenceGRCh37.p5 37.3/137
Chromosome1
Position155207244
GeneGBA
is asnp
is mentioned by
dbSNPrs78973108
ebirs78973108
HLIrs78973108
Exacrs78973108
Varsomers78973108
Maprs78973108
PheGenIrs78973108
hapmaprs78973108
1000 genomesrs78973108
hgdprs78973108
ensemblrs78973108
gopubmedrs78973108
geneviewrs78973108
scholarrs78973108
googlers78973108
pharmgkbrs78973108
gwascentralrs78973108
openSNPrs78973108
23andMers78973108
23andMe allrs78973108
SNP Nexus

SNPshotrs78973108
SNPdbers78973108
MSV3drs78973108
GWAS Ctlgrs78973108
Max Magnitude0
ClinVar
Risk rs78973108(T;T)
Alt rs78973108(T;T)
Reference rs78973108(C;C)
Significance Pathogenic
Disease Gaucher disease Gaucher disease not provided Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher disease, perinatal lethal Gaucher disease not provided Gaucher's disease, type 1
Reversed 0
HGVS NC_000001.10:g.155207244C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004573.2, RCV000020159.1, RCV000079357.3, RCV000180194.1,