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

rs797044797

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044797(C;C)
Make rs797044797(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6391481
GeneSMPD1
is asnp
is mentioned by
dbSNPrs797044797
ebirs797044797
HLIrs797044797
Exacrs797044797
Varsomers797044797
Maprs797044797
PheGenIrs797044797
hapmaprs797044797
1000 genomesrs797044797
hgdprs797044797
ensemblrs797044797
gopubmedrs797044797
geneviewrs797044797
scholarrs797044797
googlers797044797
pharmgkbrs797044797
gwascentralrs797044797
openSNPrs797044797
23andMers797044797
23andMe allrs797044797
SNP Nexus

SNPshotrs797044797
SNPdbers797044797
MSV3drs797044797
GWAS Ctlgrs797044797
Max Magnitude0
ClinVar
Risk rs797044797(C;C)
Alt rs797044797(C;C)
Reference rs797044797(T;T)
Significance Pathogenic
Disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6412711T>C
CLNSRC
CLNACC RCV000192219.1,