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rs875989836

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs875989836(C;C)
Make rs875989836(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6394384
GeneSMPD1
is asnp
is mentioned by
dbSNPrs875989836
ebirs875989836
HLIrs875989836
Exacrs875989836
Varsomers875989836
Maprs875989836
PheGenIrs875989836
hapmaprs875989836
1000 genomesrs875989836
hgdprs875989836
ensemblrs875989836
gopubmedrs875989836
geneviewrs875989836
scholarrs875989836
googlers875989836
pharmgkbrs875989836
gwascentralrs875989836
openSNPrs875989836
23andMers875989836
23andMe allrs875989836
SNP Nexus

SNPshotrs875989836
SNPdbers875989836
MSV3drs875989836
GWAS Ctlgrs875989836
Max Magnitude0
ClinVar
Risk rs875989836(C;C)
Alt rs875989836(C;C)
Reference rs875989836(T;T)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415614T>C
CLNSRC
CLNACC RCV000211547.1,