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rs72658865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs72658865(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position11116969
GeneLDLR
is asnp
is mentioned by
dbSNPrs72658865
ebirs72658865
HLIrs72658865
Exacrs72658865
Varsomers72658865
Maprs72658865
PheGenIrs72658865
hapmaprs72658865
1000 genomesrs72658865
hgdprs72658865
ensemblrs72658865
gopubmedrs72658865
geneviewrs72658865
scholarrs72658865
googlers72658865
pharmgkbrs72658865
gwascentralrs72658865
openSNPrs72658865
23andMers72658865
23andMe allrs72658865
SNP Nexus

SNPshotrs72658865
SNPdbers72658865
MSV3drs72658865
GWAS Ctlgrs72658865
Max Magnitude4

aka c.1816G>T (p.Ala606Ser)

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 rs72658865(A,T;A,T)
Alt rs72658865(A,T;A,T)
Reference rs72658865(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia Hypercholesterolaemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia Hypercholesterolaemia not provided
Reversed 0
HGVS NC_000019.9:g.11227645G>A; NC_000019.9:g.11227645G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238082.1, RCV000148567.1, RCV000162003.1, RCV000211562.2,