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rs1141814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1141814(C;T)
Make rs1141814(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155209725
GeneGBA
is asnp
is mentioned by
dbSNPrs1141814
ebirs1141814
HLIrs1141814
Exacrs1141814
Varsomers1141814
Maprs1141814
PheGenIrs1141814
hapmaprs1141814
1000 genomesrs1141814
hgdprs1141814
ensemblrs1141814
gopubmedrs1141814
geneviewrs1141814
scholarrs1141814
googlers1141814
pharmgkbrs1141814
gwascentralrs1141814
openSNPrs1141814
23andMers1141814
23andMe allrs1141814
SNP Nexus

SNPshotrs1141814
SNPdbers1141814
MSV3drs1141814
GWAS Ctlgrs1141814
Max Magnitude0
ClinVar
Risk rs1141814(T;T)
Alt rs1141814(T;T)
Reference rs1141814(C;C)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155209725G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004565.4,