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rs747342458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs747342458(A;A)
Make rs747342458(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6394445
GeneSMPD1
is asnp
is mentioned by
dbSNPrs747342458
dbSNP (old)rs747342458
ClinGenrs747342458
ebirs747342458
HLIrs747342458
Exacrs747342458
Gnomadrs747342458
Varsomers747342458
Maprs747342458
PheGenIrs747342458
Biobankrs747342458
1000 genomesrs747342458
hgdprs747342458
ensemblrs747342458
gopubmedrs747342458
geneviewrs747342458
scholarrs747342458
googlers747342458
pharmgkbrs747342458
gwascentralrs747342458
openSNPrs747342458
23andMers747342458
23andMe allrs747342458
SNP Nexus

SNPshotrs747342458
SNPdbers747342458
MSV3drs747342458
GWAS Ctlgrs747342458
Max Magnitude0
ClinVar
Risk rs747342458(A;A) rs747342458(C;C)
Alt rs747342458(A;A) rs747342458(C;C)
Reference Rs747342458(G;G)
Significance Pathogenic
Disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6415675G>C
CLNSRC
CLNACC RCV000192228.1,