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rs1064644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1064644(C;C)
Make rs1064644(C;T)
ReferenceGRCh37.p5 37.3/137
Chromosome1
Position155207983
GeneGBA
is asnp
is mentioned by
dbSNPrs1064644
ebirs1064644
HLIrs1064644
Exacrs1064644
Varsomers1064644
Maprs1064644
PheGenIrs1064644
hapmaprs1064644
1000 genomesrs1064644
hgdprs1064644
ensemblrs1064644
gopubmedrs1064644
geneviewrs1064644
scholarrs1064644
googlers1064644
pharmgkbrs1064644
gwascentralrs1064644
openSNPrs1064644
23andMers1064644
23andMe allrs1064644
SNP Nexus

SNPshotrs1064644
SNPdbers1064644
MSV3drs1064644
GWAS Ctlgrs1064644
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs1064644(C;C)
Alt rs1064644(C;C)
Reference rs1064644(T;T)
Significance Pathogenic
Disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155207983A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020157.1,



[PMID 10685993OA-icon.png] Type 2 Gaucher disease: the collodion baby phenotype revisited.

OMIM608013
Desc
Variant
Relatedalso