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rs139043155

From SNPedia

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


Make rs139043155(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11106668
GeneLDLR
is asnp
is mentioned by
dbSNPrs139043155
ebirs139043155
HLIrs139043155
Exacrs139043155
Varsomers139043155
Maprs139043155
PheGenIrs139043155
hapmaprs139043155
1000 genomesrs139043155
hgdprs139043155
ensemblrs139043155
gopubmedrs139043155
geneviewrs139043155
scholarrs139043155
googlers139043155
pharmgkbrs139043155
gwascentralrs139043155
openSNPrs139043155
23andMers139043155
23andMe allrs139043155
SNP Nexus

SNPshotrs139043155
SNPdbers139043155
MSV3drs139043155
GWAS Ctlgrs139043155
Max Magnitude4
aka c.798T>A, p.Asp266Glu or D266E

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk rs139043155(A;A)
Alt rs139043155(A;A)
Reference rs139043155(T;T)
Significance Other
Disease Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11217344T>A
CLNSRC LDLR @ LOVD
CLNACC RCV000148594.1, RCV000162020.2, RCV000172959.3,