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rs753047625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs753047625(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11128007
GeneLDLR
is asnp
is mentioned by
dbSNPrs753047625
ebirs753047625
HLIrs753047625
Exacrs753047625
Varsomers753047625
Maprs753047625
PheGenIrs753047625
hapmaprs753047625
1000 genomesrs753047625
hgdprs753047625
ensemblrs753047625
gopubmedrs753047625
geneviewrs753047625
scholarrs753047625
googlers753047625
pharmgkbrs753047625
gwascentralrs753047625
openSNPrs753047625
23andMers753047625
23andMe allrs753047625
SNP Nexus

SNPshotrs753047625
SNPdbers753047625
MSV3drs753047625
GWAS Ctlgrs753047625
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]