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rs120074119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074119(A;A)
Make rs120074119(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6394446
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074119
ebirs120074119
HLIrs120074119
Exacrs120074119
Varsomers120074119
Maprs120074119
PheGenIrs120074119
hapmaprs120074119
1000 genomesrs120074119
hgdprs120074119
ensemblrs120074119
gopubmedrs120074119
geneviewrs120074119
scholarrs120074119
googlers120074119
pharmgkbrs120074119
gwascentralrs120074119
openSNPrs120074119
23andMers120074119
23andMe allrs120074119
SNP Nexus

SNPshotrs120074119
SNPdbers120074119
MSV3drs120074119
GWAS Ctlgrs120074119
Max Magnitude0
OMIM607608
Desc
Variant0003
Relatedalso
ClinVar
Risk rs120074119(A;A)
Alt rs120074119(A;A)
Reference rs120074119(G;G)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415676G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003116.2,