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rs757086563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;A) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs757086563(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107460
GeneLDLR
is asnp
is mentioned by
dbSNPrs757086563
ebirs757086563
HLIrs757086563
Exacrs757086563
Varsomers757086563
Maprs757086563
PheGenIrs757086563
hapmaprs757086563
1000 genomesrs757086563
hgdprs757086563
ensemblrs757086563
gopubmedrs757086563
geneviewrs757086563
scholarrs757086563
googlers757086563
pharmgkbrs757086563
gwascentralrs757086563
openSNPrs757086563
23andMers757086563
23andMe allrs757086563
SNP Nexus

SNPshotrs757086563
SNPdbers757086563
MSV3drs757086563
GWAS Ctlgrs757086563
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]