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rs120074122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074122(A;A)
Make rs120074122(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6391795
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074122
ebirs120074122
HLIrs120074122
Exacrs120074122
Varsomers120074122
Maprs120074122
PheGenIrs120074122
hapmaprs120074122
1000 genomesrs120074122
hgdprs120074122
ensemblrs120074122
gopubmedrs120074122
geneviewrs120074122
scholarrs120074122
googlers120074122
pharmgkbrs120074122
gwascentralrs120074122
openSNPrs120074122
23andMers120074122
23andMe allrs120074122
SNP Nexus

SNPshotrs120074122
SNPdbers120074122
MSV3drs120074122
GWAS Ctlgrs120074122
Max Magnitude0
OMIM607608
Desc
Variant0008
Relatedalso
ClinVar
Risk rs120074122(A;A)
Alt rs120074122(A;A)
Reference rs120074122(G;G)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6413025G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003121.2,