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rs398123475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123475(G;G)
Make rs398123475(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393652
GeneSMPD1
is asnp
is mentioned by
dbSNPrs398123475
ebirs398123475
HLIrs398123475
Exacrs398123475
Varsomers398123475
Maprs398123475
PheGenIrs398123475
hapmaprs398123475
1000 genomesrs398123475
hgdprs398123475
ensemblrs398123475
gopubmedrs398123475
geneviewrs398123475
scholarrs398123475
googlers398123475
pharmgkbrs398123475
gwascentralrs398123475
openSNPrs398123475
23andMers398123475
23andMe allrs398123475
SNP Nexus

SNPshotrs398123475
SNPdbers398123475
MSV3drs398123475
GWAS Ctlgrs398123475
Max Magnitude0
ClinVar
Risk rs398123475(G;G)
Alt rs398123475(G;G)
Reference rs398123475(T;T)
Significance Probable-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.6414882T>G
CLNSRC ClinVar Emory University
CLNACC RCV000079191.3, RCV000178118.1,