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rs120074118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGC;CGC) 0 common in clinvar
(GCC;GCC) 0 common in clinvar
Make rs120074118(-;-)
Make rs120074118(-;CGC)
ReferenceGRCh38 38.1/141
Chromosome11
Position6394539
GeneSMPD1
is asnp
is mentioned by
dbSNPrs120074118
ebirs120074118
HLIrs120074118
Exacrs120074118
Varsomers120074118
Maprs120074118
PheGenIrs120074118
hapmaprs120074118
1000 genomesrs120074118
hgdprs120074118
ensemblrs120074118
gopubmedrs120074118
geneviewrs120074118
scholarrs120074118
googlers120074118
pharmgkbrs120074118
gwascentralrs120074118
openSNPrs120074118
23andMers120074118
23andMe allrs120074118
SNP Nexus

SNPshotrs120074118
SNPdbers120074118
MSV3drs120074118
GWAS Ctlgrs120074118
Max Magnitude0
OMIM607608
Desc
Variant0002
Relatedalso
ClinVar
Risk rs120074118(;)
Alt rs120074118(;)
Reference rs120074118(GCC;GCC)
Significance Pathogenic
Disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6415770_6415772delGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000179325.2, RCV000192229.1,