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rs747507019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs747507019(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110690
GeneLDLR
is asnp
is mentioned by
dbSNPrs747507019
ebirs747507019
HLIrs747507019
Exacrs747507019
Varsomers747507019
Maprs747507019
PheGenIrs747507019
hapmaprs747507019
1000 genomesrs747507019
hgdprs747507019
ensemblrs747507019
gopubmedrs747507019
geneviewrs747507019
scholarrs747507019
googlers747507019
pharmgkbrs747507019
gwascentralrs747507019
openSNPrs747507019
23andMers747507019
23andMe allrs747507019
SNP Nexus

SNPshotrs747507019
SNPdbers747507019
MSV3drs747507019
GWAS Ctlgrs747507019
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 rs747507019(T;T)
Alt rs747507019(T;T)
Reference rs747507019(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221366C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238224.1,