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rs398123476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs398123476(-;-)
Make rs398123476(-;CT)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393975
GeneSMPD1
is asnp
is mentioned by
dbSNPrs398123476
ebirs398123476
HLIrs398123476
Exacrs398123476
Varsomers398123476
Maprs398123476
PheGenIrs398123476
hapmaprs398123476
1000 genomesrs398123476
hgdprs398123476
ensemblrs398123476
gopubmedrs398123476
geneviewrs398123476
scholarrs398123476
googlers398123476
pharmgkbrs398123476
gwascentralrs398123476
openSNPrs398123476
23andMers398123476
23andMe allrs398123476
SNP Nexus

SNPshotrs398123476
SNPdbers398123476
MSV3drs398123476
GWAS Ctlgrs398123476
Max Magnitude0
ClinVar
Risk rs398123476(;)
Alt rs398123476(;)
Reference rs398123476(CT;CT)
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.6415205_6415206delCT
CLNSRC ClinVar
CLNACC RCV000079192.3, RCV000178789.1,