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rs746616623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs746616623(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11129563
GeneLDLR
is asnp
is mentioned by
dbSNPrs746616623
ebirs746616623
HLIrs746616623
Exacrs746616623
Varsomers746616623
Maprs746616623
PheGenIrs746616623
hapmaprs746616623
1000 genomesrs746616623
hgdprs746616623
ensemblrs746616623
gopubmedrs746616623
geneviewrs746616623
scholarrs746616623
googlers746616623
pharmgkbrs746616623
gwascentralrs746616623
openSNPrs746616623
23andMers746616623
23andMe allrs746616623
SNP Nexus

SNPshotrs746616623
SNPdbers746616623
MSV3drs746616623
GWAS Ctlgrs746616623
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]