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rs755799528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs755799528(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105319
GeneLDLR
is asnp
is mentioned by
dbSNPrs755799528
ebirs755799528
HLIrs755799528
Exacrs755799528
Varsomers755799528
Maprs755799528
PheGenIrs755799528
hapmaprs755799528
1000 genomesrs755799528
hgdprs755799528
ensemblrs755799528
gopubmedrs755799528
geneviewrs755799528
scholarrs755799528
googlers755799528
pharmgkbrs755799528
gwascentralrs755799528
openSNPrs755799528
23andMers755799528
23andMe allrs755799528
SNP Nexus

SNPshotrs755799528
SNPdbers755799528
MSV3drs755799528
GWAS Ctlgrs755799528
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 rs755799528(G;G)
Alt rs755799528(G;G)
Reference rs755799528(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215995C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238345.1,