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rs139089530

From SNPedia

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


Make rs139089530(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105414
GeneLDLR
is asnp
is mentioned by
dbSNPrs139089530
ebirs139089530
HLIrs139089530
Exacrs139089530
Varsomers139089530
Maprs139089530
PheGenIrs139089530
hapmaprs139089530
1000 genomesrs139089530
hgdprs139089530
ensemblrs139089530
gopubmedrs139089530
geneviewrs139089530
scholarrs139089530
googlers139089530
pharmgkbrs139089530
gwascentralrs139089530
openSNPrs139089530
23andMers139089530
23andMe allrs139089530
SNP Nexus

SNPshotrs139089530
SNPdbers139089530
MSV3drs139089530
GWAS Ctlgrs139089530
Max Magnitude4
aka c.508G>A (p.Asp170Asn)

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 rs139089530(A;A)
Alt rs139089530(A;A)
Reference rs139089530(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216090G>A
CLNSRC
CLNACC RCV000211593.2,