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rs797044799

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044799(A;A)
Make rs797044799(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6391939
GeneSMPD1
is asnp
is mentioned by
dbSNPrs797044799
ebirs797044799
HLIrs797044799
Exacrs797044799
Varsomers797044799
Maprs797044799
PheGenIrs797044799
hapmaprs797044799
1000 genomesrs797044799
hgdprs797044799
ensemblrs797044799
gopubmedrs797044799
geneviewrs797044799
scholarrs797044799
googlers797044799
pharmgkbrs797044799
gwascentralrs797044799
openSNPrs797044799
23andMers797044799
23andMe allrs797044799
SNP Nexus

SNPshotrs797044799
SNPdbers797044799
MSV3drs797044799
GWAS Ctlgrs797044799
Max Magnitude0
ClinVar
Risk rs797044799(A;A)
Alt rs797044799(A;A)
Reference rs797044799(C;C)
Significance Pathogenic
Disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6413169C>A
CLNSRC
CLNACC RCV000192221.1,