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rs267607075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607075(A;A)
Make rs267607075(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position6394006
GeneSMPD1
is asnp
is mentioned by
dbSNPrs267607075
ebirs267607075
HLIrs267607075
Exacrs267607075
Varsomers267607075
Maprs267607075
PheGenIrs267607075
hapmaprs267607075
1000 genomesrs267607075
hgdprs267607075
ensemblrs267607075
gopubmedrs267607075
geneviewrs267607075
scholarrs267607075
googlers267607075
pharmgkbrs267607075
gwascentralrs267607075
openSNPrs267607075
23andMers267607075
23andMe allrs267607075
SNP Nexus

SNPshotrs267607075
SNPdbers267607075
MSV3drs267607075
GWAS Ctlgrs267607075
Max Magnitude0
ClinVar
Risk rs267607075(A,T;A,T)
Alt rs267607075(A,T;A,T)
Reference rs267607075(C;C)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415236C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003130.2,