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rs120074126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074126(C;T)
Make rs120074126(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393620
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074126
ebirs120074126
HLIrs120074126
Exacrs120074126
Varsomers120074126
Maprs120074126
PheGenIrs120074126
hapmaprs120074126
1000 genomesrs120074126
hgdprs120074126
ensemblrs120074126
gopubmedrs120074126
geneviewrs120074126
scholarrs120074126
googlers120074126
pharmgkbrs120074126
gwascentralrs120074126
openSNPrs120074126
23andMers120074126
23andMe allrs120074126
SNP Nexus

SNPshotrs120074126
SNPdbers120074126
MSV3drs120074126
GWAS Ctlgrs120074126
Max Magnitude0
OMIM607608
Desc
Variant0013
Relatedalso
ClinVar
Risk rs120074126(T;T)
Alt rs120074126(T;T)
Reference rs120074126(C;C)
Significance Pathogenic
Disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6414850C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003126.2, RCV000192225.1,