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rs398123474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123474(C;C)
Make rs398123474(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393215
GeneSMPD1
is asnp
is mentioned by
dbSNPrs398123474
ebirs398123474
HLIrs398123474
Exacrs398123474
Varsomers398123474
Maprs398123474
PheGenIrs398123474
hapmaprs398123474
1000 genomesrs398123474
hgdprs398123474
ensemblrs398123474
gopubmedrs398123474
geneviewrs398123474
scholarrs398123474
googlers398123474
pharmgkbrs398123474
gwascentralrs398123474
openSNPrs398123474
23andMers398123474
23andMe allrs398123474
SNP Nexus

SNPshotrs398123474
SNPdbers398123474
MSV3drs398123474
GWAS Ctlgrs398123474
Max Magnitude0
ClinVar
Risk rs398123474(C;C)
Alt rs398123474(C;C)
Reference rs398123474(G;G)
Significance Pathogenic
Disease not provided Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN not provided Niemann-Pick disease, type B
Reversed 0
HGVS NC_000011.9:g.6414445G>C
CLNSRC HGMD
CLNACC RCV000079190.3, RCV000177083.1,