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rs75822236

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs75822236(C;T)
Make rs75822236(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs75822236
ebirs75822236
HLIrs75822236
Exacrs75822236
Varsomers75822236
Maprs75822236
PheGenIrs75822236
hapmaprs75822236
1000 genomesrs75822236
hgdprs75822236
ensemblrs75822236
gopubmedrs75822236
geneviewrs75822236
scholarrs75822236
googlers75822236
pharmgkbrs75822236
gwascentralrs75822236
openSNPrs75822236
23andMers75822236
23andMe allrs75822236
SNP Nexus

SNPshotrs75822236
SNPdbers75822236
MSV3drs75822236
GWAS Ctlgrs75822236
Max Magnitude0
ClinVar
Risk rs75822236(T;T)
Alt rs75822236(T;T)
Reference rs75822236(C;C)
Significance Pathogenic
Disease Gaucher's disease Gaucher disease not provided
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Gaucher disease not provided
Reversed 0
HGVS NC_000001.10:g.155204793C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004553.5, RCV000020153.1, RCV000153309.2,