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rs748944640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs748944640(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105324
GeneLDLR
is asnp
is mentioned by
dbSNPrs748944640
ebirs748944640
HLIrs748944640
Exacrs748944640
Varsomers748944640
Maprs748944640
PheGenIrs748944640
hapmaprs748944640
1000 genomesrs748944640
hgdprs748944640
ensemblrs748944640
gopubmedrs748944640
geneviewrs748944640
scholarrs748944640
googlers748944640
pharmgkbrs748944640
gwascentralrs748944640
openSNPrs748944640
23andMers748944640
23andMe allrs748944640
SNP Nexus

SNPshotrs748944640
SNPdbers748944640
MSV3drs748944640
GWAS Ctlgrs748944640
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 rs748944640(A,T;A,T)
Alt rs748944640(A,T;A,T)
Reference rs748944640(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216000G>A; NC_000019.9:g.11216000G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238418.1, RCV000237501.1,