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rs769904764

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs769904764(C;T)
Make rs769904764(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6394203
GeneSMPD1
is asnp
is mentioned by
dbSNPrs769904764
ebirs769904764
HLIrs769904764
Exacrs769904764
Varsomers769904764
Maprs769904764
PheGenIrs769904764
hapmaprs769904764
1000 genomesrs769904764
hgdprs769904764
ensemblrs769904764
gopubmedrs769904764
geneviewrs769904764
scholarrs769904764
googlers769904764
pharmgkbrs769904764
gwascentralrs769904764
openSNPrs769904764
23andMers769904764
23andMe allrs769904764
SNP Nexus

SNPshotrs769904764
SNPdbers769904764
MSV3drs769904764
GWAS Ctlgrs769904764
Max Magnitude0
ClinVar
Risk rs769904764(T;T)
Alt rs769904764(T;T)
Reference rs769904764(C;C)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6415433C>T
CLNSRC
CLNACC RCV000179329.1,