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

rs120074117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Niemann-Pick Disease Type A carrier
(T;T) 5 Niemann-Pick Disease Type A
ReferenceGRCh38 38.1/141
Chromosome11
Position6394204
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074117
ebirs120074117
HLIrs120074117
Exacrs120074117
Varsomers120074117
Maprs120074117
PheGenIrs120074117
hapmaprs120074117
1000 genomesrs120074117
hgdprs120074117
ensemblrs120074117
gopubmedrs120074117
geneviewrs120074117
scholarrs120074117
googlers120074117
pharmgkbrs120074117
gwascentralrs120074117
openSNPrs120074117
23andMers120074117
23andMe allrs120074117
SNP Nexus

SNPshotrs120074117
SNPdbers120074117
MSV3drs120074117
GWAS Ctlgrs120074117
Max Magnitude5
Niemann-Pick Disease Type A
OMIM607608
Desc
Variant0001
Relatedalso
ClinVar
Risk rs120074117(A,T;A,T)
Alt rs120074117(A,T;A,T)
Reference rs120074117(G;G)
Significance Pathogenic
Disease not provided Niemann-Pick disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6415434G>A; NC_000011.9:g.6415434G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000153983.2, RCV000179324.1, RCV000003114.2, RCV000179327.1, RCV000192227.1,