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rs144172724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs144172724(A;A)
ReferenceGRCh38 38.1/142
Chromosome19
Position11102774
GeneLDLR
is asnp
is mentioned by
dbSNPrs144172724
ebirs144172724
HLIrs144172724
Exacrs144172724
Varsomers144172724
Maprs144172724
PheGenIrs144172724
hapmaprs144172724
1000 genomesrs144172724
hgdprs144172724
ensemblrs144172724
gopubmedrs144172724
geneviewrs144172724
scholarrs144172724
googlers144172724
pharmgkbrs144172724
gwascentralrs144172724
openSNPrs144172724
23andMers144172724
23andMe allrs144172724
SNP Nexus

SNPshotrs144172724
SNPdbers144172724
MSV3drs144172724
GWAS Ctlgrs144172724
Max Magnitude4

aka c.301G>A (p.Glu101Lys)

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 rs144172724(A,T;A,T)
Alt rs144172724(A,T;A,T)
Reference rs144172724(G;G)
Significance Other
Disease Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213450G>A; NC_000019.9:g.11213450G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000148571.1, RCV000162016.1, RCV000211583.3, RCV000238482.1,