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rs137943601

From SNPedia

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


Make rs137943601(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11113313
GeneLDLR
is asnp
is mentioned by
dbSNPrs137943601
ebirs137943601
HLIrs137943601
Exacrs137943601
Varsomers137943601
Maprs137943601
PheGenIrs137943601
hapmaprs137943601
1000 genomesrs137943601
hgdprs137943601
ensemblrs137943601
gopubmedrs137943601
geneviewrs137943601
scholarrs137943601
googlers137943601
pharmgkbrs137943601
gwascentralrs137943601
openSNPrs137943601
23andMers137943601
23andMe allrs137943601
SNP Nexus

SNPshotrs137943601
SNPdbers137943601
MSV3drs137943601
GWAS Ctlgrs137943601
Max Magnitude4

aka c.1222G>A, p.Glu408Lys or E408K

reported in ClinVar as both pathogenic - and - likely benign - for familial hypercholesterolemia and therefore increased risk for coronary artery disease, so, interpret with caution


ClinVar
Risk rs137943601(A;A)
Alt rs137943601(A;A)
Reference rs137943601(G;G)
Significance Other
Disease Familial hypercholesterolemia Hypercholesterolaemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia Hypercholesterolaemia
Reversed 0
HGVS NC_000019.9:g.11223989G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000030125.4, RCV000148564.1,


[PMID 122051] (1-14C) acetate assimilation by obligate methylotrophs, Pseudomonas methanica and Methylosinus trichosporium.


[PMID 3931803OA-icon.png] Treatment of homozygous familial hypercholesterolaemia: an informative sibship.


[PMID 17094996] Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.


[PMID 17539906] Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.


[PMID 18700895] Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.


[PMID 19026292] Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.