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rs120074120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074120(A;A)
Make rs120074120(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6391853
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074120
ebirs120074120
HLIrs120074120
Exacrs120074120
Varsomers120074120
Maprs120074120
PheGenIrs120074120
hapmaprs120074120
1000 genomesrs120074120
hgdprs120074120
ensemblrs120074120
gopubmedrs120074120
geneviewrs120074120
scholarrs120074120
googlers120074120
pharmgkbrs120074120
gwascentralrs120074120
openSNPrs120074120
23andMers120074120
23andMe allrs120074120
SNP Nexus

SNPshotrs120074120
SNPdbers120074120
MSV3drs120074120
GWAS Ctlgrs120074120
Max Magnitude0
OMIM607608
Desc
Variant0005
Relatedalso
ClinVar
Risk rs120074120(A;A)
Alt rs120074120(A;A)
Reference rs120074120(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.6413083T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003118.2,