Have questions? Visit https://www.reddit.com/r/SNPedia

rs751228587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;C) 4 Dominant mutation associated with Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Make rs751228587(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120442
GeneLDLR
is asnp
is mentioned by
dbSNPrs751228587
ebirs751228587
HLIrs751228587
Exacrs751228587
Varsomers751228587
Maprs751228587
PheGenIrs751228587
hapmaprs751228587
1000 genomesrs751228587
hgdprs751228587
ensemblrs751228587
gopubmedrs751228587
geneviewrs751228587
scholarrs751228587
googlers751228587
pharmgkbrs751228587
gwascentralrs751228587
openSNPrs751228587
23andMers751228587
23andMe allrs751228587
SNP Nexus

SNPshotrs751228587
SNPdbers751228587
MSV3drs751228587
GWAS Ctlgrs751228587
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]
ClinVar
Risk rs751228587(TC,TT;TC,TT)
Alt rs751228587(TC,TT;TC,TT)
Reference rs751228587(T;T)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231118dupT
CLNSRC LDLR @ LOVD
CLNACC RCV000238333.1,