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rs267607074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607074(A;C)
Make rs267607074(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393961
GeneSMPD1
is asnp
is mentioned by
dbSNPrs267607074
ebirs267607074
HLIrs267607074
Exacrs267607074
Varsomers267607074
Maprs267607074
PheGenIrs267607074
hapmaprs267607074
1000 genomesrs267607074
hgdprs267607074
ensemblrs267607074
gopubmedrs267607074
geneviewrs267607074
scholarrs267607074
googlers267607074
pharmgkbrs267607074
gwascentralrs267607074
openSNPrs267607074
23andMers267607074
23andMe allrs267607074
SNP Nexus

SNPshotrs267607074
SNPdbers267607074
MSV3drs267607074
GWAS Ctlgrs267607074
Max Magnitude0
ClinVar
Risk rs267607074(C;C)
Alt rs267607074(C;C)
Reference rs267607074(A;A)
Significance Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415191A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003131.2,