Have questions? Visit https://www.reddit.com/r/SNPedia

rs439898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Gaucher disease mutation
Make rs439898(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position155238630
GeneGBA
is asnp
is mentioned by
dbSNPrs439898
dbSNP (classic)rs439898
ClinGenrs439898
ebirs439898
HLIrs439898
Exacrs439898
Gnomadrs439898
Varsomers439898
LitVarrs439898
Maprs439898
PheGenIrs439898
Biobankrs439898
1000 genomesrs439898
hgdprs439898
ensemblrs439898
geneviewrs439898
scholarrs439898
googlers439898
pharmgkbrs439898
gwascentralrs439898
openSNPrs439898
23andMers439898
23andMe allrs439898
SNPshotrs439898
SNPdbers439898
MSV3drs439898
GWAS Ctlgrs439898
Merged fromRs397515515
Max Magnitude3

aka c.475C>T (p.Arg159Trp or R159W)

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 UniProtKB (protein)
CLNACC RCV000055774.1, RCV000079345.3, RCV000179355.1,