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rs120074121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074121(A;A)
Make rs120074121(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393276
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074121
ebirs120074121
HLIrs120074121
Exacrs120074121
Varsomers120074121
Maprs120074121
PheGenIrs120074121
hapmaprs120074121
1000 genomesrs120074121
hgdprs120074121
ensemblrs120074121
gopubmedrs120074121
geneviewrs120074121
scholarrs120074121
googlers120074121
pharmgkbrs120074121
gwascentralrs120074121
openSNPrs120074121
23andMers120074121
23andMe allrs120074121
SNP Nexus

SNPshotrs120074121
SNPdbers120074121
MSV3drs120074121
GWAS Ctlgrs120074121
Max Magnitude0
OMIM607608
Desc
Variant0007
Relatedalso
ClinVar
Risk rs120074121(A;A)
Alt rs120074121(A;A)
Reference rs120074121(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.6414506G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003120.1,