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

rs797044798

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044798(C;C)
Make rs797044798(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6391657
GeneSMPD1
is asnp
is mentioned by
dbSNPrs797044798
ebirs797044798
HLIrs797044798
Exacrs797044798
Varsomers797044798
Maprs797044798
PheGenIrs797044798
hapmaprs797044798
1000 genomesrs797044798
hgdprs797044798
ensemblrs797044798
gopubmedrs797044798
geneviewrs797044798
scholarrs797044798
googlers797044798
pharmgkbrs797044798
gwascentralrs797044798
openSNPrs797044798
23andMers797044798
23andMe allrs797044798
SNP Nexus

SNPshotrs797044798
SNPdbers797044798
MSV3drs797044798
GWAS Ctlgrs797044798
Max Magnitude0
ClinVar
Risk rs797044798(C;C)
Alt rs797044798(C;C)
Reference rs797044798(G;G)
Significance Pathogenic
Disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6412887G>C
CLNSRC
CLNACC RCV000192220.1,