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rs267607073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607073(A;A)
Make rs267607073(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393667
GeneSMPD1
is asnp
is mentioned by
dbSNPrs267607073
ebirs267607073
HLIrs267607073
Exacrs267607073
Varsomers267607073
Maprs267607073
PheGenIrs267607073
hapmaprs267607073
1000 genomesrs267607073
hgdprs267607073
ensemblrs267607073
gopubmedrs267607073
geneviewrs267607073
scholarrs267607073
googlers267607073
pharmgkbrs267607073
gwascentralrs267607073
openSNPrs267607073
23andMers267607073
23andMe allrs267607073
SNP Nexus

SNPshotrs267607073
SNPdbers267607073
MSV3drs267607073
GWAS Ctlgrs267607073
Max Magnitude0
ClinVar
Risk rs267607073(A;A)
Alt rs267607073(A;A)
Reference rs267607073(C;C)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6414897C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003117.2,