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rs439898

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs439898(C;T)
Make rs439898(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs439898
ebirs439898
HLIrs439898
Exacrs439898
Varsomers439898
Maprs439898
PheGenIrs439898
hapmaprs439898
1000 genomesrs439898
hgdprs439898
ensemblrs439898
gopubmedrs439898
geneviewrs439898
scholarrs439898
googlers439898
pharmgkbrs439898
gwascentralrs439898
openSNPrs439898
23andMers439898
23andMe allrs439898
SNP Nexus

SNPshotrs439898
SNPdbers439898
MSV3drs439898
GWAS Ctlgrs439898
Max Magnitude0
ClinVar
Risk rs439898(T;T)
Alt rs439898(T;T)
Reference rs439898(C;C)
Significance Pathogenic
Disease Gaucher disease not provided Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher disease not provided Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155208421G>A
CLNSRC HGMD
CLNACC RCV000055774.1, RCV000079345.3, RCV000179355.1,