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rs797044800

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044800(A;A)
Make rs797044800(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6392141
GeneSMPD1
is asnp
is mentioned by
dbSNPrs797044800
ebirs797044800
HLIrs797044800
Exacrs797044800
Varsomers797044800
Maprs797044800
PheGenIrs797044800
hapmaprs797044800
1000 genomesrs797044800
hgdprs797044800
ensemblrs797044800
gopubmedrs797044800
geneviewrs797044800
scholarrs797044800
googlers797044800
pharmgkbrs797044800
gwascentralrs797044800
openSNPrs797044800
23andMers797044800
23andMe allrs797044800
SNP Nexus

SNPshotrs797044800
SNPdbers797044800
MSV3drs797044800
GWAS Ctlgrs797044800
Max Magnitude0
ClinVar
Risk rs797044800(A;A)
Alt rs797044800(A;A)
Reference rs797044800(C;C)
Significance Pathogenic
Disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6413371C>A
CLNSRC
CLNACC RCV000192224.1,