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rs398123478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123478(C;T)
Make rs398123478(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6394335
GeneSMPD1
is asnp
is mentioned by
dbSNPrs398123478
ebirs398123478
HLIrs398123478
Exacrs398123478
Varsomers398123478
Maprs398123478
PheGenIrs398123478
hapmaprs398123478
1000 genomesrs398123478
hgdprs398123478
ensemblrs398123478
gopubmedrs398123478
geneviewrs398123478
scholarrs398123478
googlers398123478
pharmgkbrs398123478
gwascentralrs398123478
openSNPrs398123478
23andMers398123478
23andMe allrs398123478
SNP Nexus

SNPshotrs398123478
SNPdbers398123478
MSV3drs398123478
GWAS Ctlgrs398123478
Max Magnitude0
ClinVar
Risk rs398123478(T;T)
Alt rs398123478(T;T)
Reference rs398123478(C;C)
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.6415565C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079196.3, RCV000179326.1,