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rs139624145

From SNPedia

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


Make rs139624145(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position11113620
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs139624145
ebirs139624145
HLIrs139624145
Exacrs139624145
Varsomers139624145
Maprs139624145
PheGenIrs139624145
hapmaprs139624145
1000 genomesrs139624145
hgdprs139624145
ensemblrs139624145
gopubmedrs139624145
geneviewrs139624145
scholarrs139624145
googlers139624145
pharmgkbrs139624145
gwascentralrs139624145
openSNPrs139624145
23andMers139624145
23andMe allrs139624145
SNP Nexus

SNPshotrs139624145
SNPdbers139624145
MSV3drs139624145
GWAS Ctlgrs139624145
Max Magnitude4

aka c.1444G>A (p.Asp482Asn)

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 rs139624145(A;A)
Alt rs139624145(A;A)
Reference rs139624145(G;G)
Significance Other
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224296G>A; NC_000019.9:g.11224296G>C; NC_000019.9:g.11224296G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000148591.1, RCV000172963.3, RCV000238303.1, RCV000237378.1,