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rs746939188

From SNPedia

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


Make rs746939188(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116105
GeneLDLR
is asnp
is mentioned by
dbSNPrs746939188
ebirs746939188
HLIrs746939188
Exacrs746939188
Varsomers746939188
Maprs746939188
PheGenIrs746939188
hapmaprs746939188
1000 genomesrs746939188
hgdprs746939188
ensemblrs746939188
gopubmedrs746939188
geneviewrs746939188
scholarrs746939188
googlers746939188
pharmgkbrs746939188
gwascentralrs746939188
openSNPrs746939188
23andMers746939188
23andMe allrs746939188
SNP Nexus

SNPshotrs746939188
SNPdbers746939188
MSV3drs746939188
GWAS Ctlgrs746939188
Max Magnitude4
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 rs746939188(A;A)
Alt rs746939188(A;A)
Reference rs746939188(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226781G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237191.1,