Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123479(C;C)
Make rs398123479(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6391822
GeneSMPD1
is asnp
is mentioned by
dbSNPrs398123479
ebirs398123479
HLIrs398123479
Exacrs398123479
Varsomers398123479
Maprs398123479
PheGenIrs398123479
hapmaprs398123479
1000 genomesrs398123479
hgdprs398123479
ensemblrs398123479
gopubmedrs398123479
geneviewrs398123479
scholarrs398123479
googlers398123479
pharmgkbrs398123479
gwascentralrs398123479
openSNPrs398123479
23andMers398123479
23andMe allrs398123479
SNP Nexus

SNPshotrs398123479
SNPdbers398123479
MSV3drs398123479
GWAS Ctlgrs398123479
Max Magnitude0
ClinVar
Risk rs398123479(C;C)
Alt rs398123479(C;C)
Reference rs398123479(G;G)
Significance Pathogenic
Disease Niemann-Pick disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6413052G>C
CLNSRC HGMD
CLNACC RCV000079198.4, RCV000175626.1,