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rs780166965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs780166965(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11128031
GeneLDLR
is asnp
is mentioned by
dbSNPrs780166965
ebirs780166965
HLIrs780166965
Exacrs780166965
Varsomers780166965
Maprs780166965
PheGenIrs780166965
hapmaprs780166965
1000 genomesrs780166965
hgdprs780166965
ensemblrs780166965
gopubmedrs780166965
geneviewrs780166965
scholarrs780166965
googlers780166965
pharmgkbrs780166965
gwascentralrs780166965
openSNPrs780166965
23andMers780166965
23andMe allrs780166965
SNP Nexus

SNPshotrs780166965
SNPdbers780166965
MSV3drs780166965
GWAS Ctlgrs780166965
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]