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rs373646964

From SNPedia

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


Make rs373646964(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113650
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs373646964
ebirs373646964
HLIrs373646964
Exacrs373646964
Varsomers373646964
Maprs373646964
PheGenIrs373646964
hapmaprs373646964
1000 genomesrs373646964
hgdprs373646964
ensemblrs373646964
gopubmedrs373646964
geneviewrs373646964
scholarrs373646964
googlers373646964
pharmgkbrs373646964
gwascentralrs373646964
openSNPrs373646964
23andMers373646964
23andMe allrs373646964
SNP Nexus

SNPshotrs373646964
SNPdbers373646964
MSV3drs373646964
GWAS Ctlgrs373646964
Max Magnitude4
aka c.1474G>A (p.Asp492Asn)

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 rs373646964(A;A)
Alt rs373646964(A;A)
Reference rs373646964(G;G)
Significance Probable-Pathogenic
Disease Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224326G>A; NC_000019.9:g.11224326G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000148592.1, RCV000161989.1, RCV000237459.1, RCV000238035.1,