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rs794727780

From SNPedia

Merged intors120074118
Orientationplus
Stabilizedplus
Geno Mag Summary
(GCC;GCC) 0 common in clinvar
Make rs794727780(-;-)
Make rs794727780(-;GCC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position6394540
GeneSMPD1
is asnp
is mentioned by
dbSNPrs794727780
ClinGenrs794727780
ebirs794727780
HLIrs794727780
Exacrs794727780
Varsomers794727780
Maprs794727780
PheGenIrs794727780
hapmaprs794727780
1000 genomesrs794727780
hgdprs794727780
ensemblrs794727780
gopubmedrs794727780
geneviewrs794727780
scholarrs794727780
googlers794727780
pharmgkbrs794727780
gwascentralrs794727780
openSNPrs794727780
23andMers794727780
23andMe allrs794727780
SNP Nexus

SNPshotrs794727780
SNPdbers794727780
MSV3drs794727780
GWAS Ctlgrs794727780
StatusMerged into rs120074118
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs794727780(GCC;GCC)
Significance Pathogenic
Disease Niemann-Pick disease Sphingomyelin/cholesterol lipidosis
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis
Reversed 0
HGVS NC_000011.9:g.6415770_6415772delGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000179325.2, RCV000192229.1,