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rs387906289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Niemann-Pick Disease Type A
(-;C) 3 Niemann-Pick Disease Type A carrier
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position6392061
GeneSMPD1
is asnp
is mentioned by
dbSNPrs387906289
ebirs387906289
HLIrs387906289
Exacrs387906289
Varsomers387906289
Maprs387906289
PheGenIrs387906289
hapmaprs387906289
1000 genomesrs387906289
hgdprs387906289
ensemblrs387906289
gopubmedrs387906289
geneviewrs387906289
scholarrs387906289
googlers387906289
pharmgkbrs387906289
gwascentralrs387906289
openSNPrs387906289
23andMers387906289
23andMe allrs387906289
SNP Nexus

SNPshotrs387906289
SNPdbers387906289
MSV3drs387906289
GWAS Ctlgrs387906289
Max Magnitude5
Niemann-Pick Disease Type A
ClinVar
Risk rs387906289(;)
Alt rs387906289(;)
Reference rs387906289(C;C)
Significance Pathogenic
Disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6413291delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003124.2, RCV000192223.1,