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rs120074123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074123(A;G)
Make rs120074123(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393278
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074123
ebirs120074123
HLIrs120074123
Exacrs120074123
Varsomers120074123
Maprs120074123
PheGenIrs120074123
hapmaprs120074123
1000 genomesrs120074123
hgdprs120074123
ensemblrs120074123
gopubmedrs120074123
geneviewrs120074123
scholarrs120074123
googlers120074123
pharmgkbrs120074123
gwascentralrs120074123
openSNPrs120074123
23andMers120074123
23andMe allrs120074123
SNP Nexus

SNPshotrs120074123
SNPdbers120074123
MSV3drs120074123
GWAS Ctlgrs120074123
Max Magnitude0
OMIM607608
Desc
Variant0009
Relatedalso
ClinVar
Risk rs120074123(G;G)
Alt rs120074123(G;G)
Reference rs120074123(A;A)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6414508A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003122.2,