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rs794728585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs794728585(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100333
GeneLDLR
is asnp
is mentioned by
dbSNPrs794728585
ebirs794728585
HLIrs794728585
Exacrs794728585
Varsomers794728585
Maprs794728585
PheGenIrs794728585
hapmaprs794728585
1000 genomesrs794728585
hgdprs794728585
ensemblrs794728585
gopubmedrs794728585
geneviewrs794728585
scholarrs794728585
googlers794728585
pharmgkbrs794728585
gwascentralrs794728585
openSNPrs794728585
23andMers794728585
23andMe allrs794728585
SNP Nexus

SNPshotrs794728585
SNPdbers794728585
MSV3drs794728585
GWAS Ctlgrs794728585
Max Magnitude4
aka c.178C>T or p.Gln60Ter

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk rs794728585(T;T)
Alt rs794728585(T;T)
Reference rs794728585(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene LDLR
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.11211009C>T
CLNSRC
CLNACC RCV000182345.1,