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rs149227308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs149227308(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11111619
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs149227308
ebirs149227308
HLIrs149227308
Exacrs149227308
Varsomers149227308
Maprs149227308
PheGenIrs149227308
hapmaprs149227308
1000 genomesrs149227308
hgdprs149227308
ensemblrs149227308
gopubmedrs149227308
geneviewrs149227308
scholarrs149227308
googlers149227308
pharmgkbrs149227308
gwascentralrs149227308
openSNPrs149227308
23andMers149227308
23andMe allrs149227308
SNP Nexus

SNPshotrs149227308
SNPdbers149227308
MSV3drs149227308
GWAS Ctlgrs149227308
Max Magnitude4
aka c.1166C>T (p.Thr389Met)

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 rs149227308(T;T)
Alt rs149227308(T;T)
Reference rs149227308(C;C)
Significance Probable-Pathogenic
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222295C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000148590.1, RCV000237987.1,