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rs373869746

From SNPedia

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


Make rs373869746(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110678
GeneLDLR
is asnp
is mentioned by
dbSNPrs373869746
ebirs373869746
HLIrs373869746
Exacrs373869746
Varsomers373869746
Maprs373869746
PheGenIrs373869746
hapmaprs373869746
1000 genomesrs373869746
hgdprs373869746
ensemblrs373869746
gopubmedrs373869746
geneviewrs373869746
scholarrs373869746
googlers373869746
pharmgkbrs373869746
gwascentralrs373869746
openSNPrs373869746
23andMers373869746
23andMe allrs373869746
SNP Nexus

SNPshotrs373869746
SNPdbers373869746
MSV3drs373869746
GWAS Ctlgrs373869746
Max Magnitude4
aka c.967G>A (p.Gly323Ser)

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 rs373869746(A;A)
Alt rs373869746(A;A)
Reference rs373869746(G;G)
Significance Probable-Pathogenic
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221354G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000148589.1, RCV000238216.1,