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rs120074127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074127(C;T)
Make rs120074127(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393680
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074127
ebirs120074127
HLIrs120074127
Exacrs120074127
Varsomers120074127
Maprs120074127
PheGenIrs120074127
hapmaprs120074127
1000 genomesrs120074127
hgdprs120074127
ensemblrs120074127
gopubmedrs120074127
geneviewrs120074127
scholarrs120074127
googlers120074127
pharmgkbrs120074127
gwascentralrs120074127
openSNPrs120074127
23andMers120074127
23andMe allrs120074127
SNP Nexus

SNPshotrs120074127
SNPdbers120074127
MSV3drs120074127
GWAS Ctlgrs120074127
Max Magnitude0
OMIM607608
Desc
Variant0014
Relatedalso
ClinVar
Risk rs120074127(G,T;G,T)
Alt rs120074127(G,T;G,T)
Reference rs120074127(C;C)
Significance Pathogenic
Disease Niemann-Pick disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6414910C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003127.2, RCV000193674.1,