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rs755449669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs755449669(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11111514
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs755449669
ebirs755449669
HLIrs755449669
Exacrs755449669
Varsomers755449669
Maprs755449669
PheGenIrs755449669
hapmaprs755449669
1000 genomesrs755449669
hgdprs755449669
ensemblrs755449669
gopubmedrs755449669
geneviewrs755449669
scholarrs755449669
googlers755449669
pharmgkbrs755449669
gwascentralrs755449669
openSNPrs755449669
23andMers755449669
23andMe allrs755449669
SNP Nexus

SNPshotrs755449669
SNPdbers755449669
MSV3drs755449669
GWAS Ctlgrs755449669
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 rs755449669(G;G)
Alt rs755449669(G;G)
Reference rs755449669(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222190A>C; NC_000019.9:g.11222190A>G; NC_000019.9:g.11222190A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238540.1, RCV000237417.1, RCV000237971.1,