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rs778309692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs778309692(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113390
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs778309692
ebirs778309692
HLIrs778309692
Exacrs778309692
Varsomers778309692
Maprs778309692
PheGenIrs778309692
hapmaprs778309692
1000 genomesrs778309692
hgdprs778309692
ensemblrs778309692
gopubmedrs778309692
geneviewrs778309692
scholarrs778309692
googlers778309692
pharmgkbrs778309692
gwascentralrs778309692
openSNPrs778309692
23andMers778309692
23andMe allrs778309692
SNP Nexus

SNPshotrs778309692
SNPdbers778309692
MSV3drs778309692
GWAS Ctlgrs778309692
Max Magnitude4
This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]