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rs120074124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Niemann-Pick Disease Type A
(C;T) 3 Niemann-Pick Disease Type A carrier
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position6391976
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074124
ebirs120074124
HLIrs120074124
Exacrs120074124
Varsomers120074124
Maprs120074124
PheGenIrs120074124
hapmaprs120074124
1000 genomesrs120074124
hgdprs120074124
ensemblrs120074124
gopubmedrs120074124
geneviewrs120074124
scholarrs120074124
googlers120074124
pharmgkbrs120074124
gwascentralrs120074124
openSNPrs120074124
23andMers120074124
23andMe allrs120074124
SNP Nexus

SNPshotrs120074124
SNPdbers120074124
MSV3drs120074124
GWAS Ctlgrs120074124
Max Magnitude5
Niemann-Pick Disease Type A
OMIM607608
Desc
Variant0010
Relatedalso
ClinVar
Risk rs120074124(C;C)
Alt rs120074124(C;C)
Reference rs120074124(T;T)
Significance Pathogenic
Disease Niemann-Pick disease not provided Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A not provided Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6413206T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003123.1, RCV000079200.3, RCV000175622.1, RCV000192222.1,