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

rs182812968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs182812968(C;T)
Make rs182812968(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position6393981
GeneSMPD1
is asnp
is mentioned by
dbSNPrs182812968
ebirs182812968
HLIrs182812968
Exacrs182812968
Varsomers182812968
Maprs182812968
PheGenIrs182812968
hapmaprs182812968
1000 genomesrs182812968
hgdprs182812968
ensemblrs182812968
gopubmedrs182812968
geneviewrs182812968
scholarrs182812968
googlers182812968
pharmgkbrs182812968
gwascentralrs182812968
openSNPrs182812968
23andMers182812968
23andMe allrs182812968
SNP Nexus

SNPshotrs182812968
SNPdbers182812968
MSV3drs182812968
GWAS Ctlgrs182812968
Max Magnitude0
ClinVar
Risk rs182812968(T;T)
Alt rs182812968(T;T)
Reference rs182812968(C;C)
Significance Pathogenic
Disease not provided Niemann-Pick disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6415211C>T
CLNSRC HGMD
CLNACC RCV000079193.3, RCV000169170.1, RCV000178791.1, RCV000192226.1, RCV000214418.1,