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rs120074125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074125(G;G)
Make rs120074125(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393301
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074125
ebirs120074125
HLIrs120074125
Exacrs120074125
Varsomers120074125
Maprs120074125
PheGenIrs120074125
hapmaprs120074125
1000 genomesrs120074125
hgdprs120074125
ensemblrs120074125
gopubmedrs120074125
geneviewrs120074125
scholarrs120074125
googlers120074125
pharmgkbrs120074125
gwascentralrs120074125
openSNPrs120074125
23andMers120074125
23andMe allrs120074125
SNP Nexus

SNPshotrs120074125
SNPdbers120074125
MSV3drs120074125
GWAS Ctlgrs120074125
Max Magnitude0
OMIM607608
Desc
Variant0012
Relatedalso
ClinVar
Risk rs120074125(G;G)
Alt rs120074125(G;G)
Reference rs120074125(T;T)
Significance Pathogenic
Disease Niemann-pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-pick disease, intermediate, protracted neurovisceral
Reversed 0
HGVS NC_000011.9:g.6414531T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003125.2,