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rs750649426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 4 Dominant mutation associated with Familial Hypercholesterolemia
(C;C) 0 common/normal


Make rs750649426(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11111629
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs750649426
ebirs750649426
HLIrs750649426
Exacrs750649426
Varsomers750649426
Maprs750649426
PheGenIrs750649426
hapmaprs750649426
1000 genomesrs750649426
hgdprs750649426
ensemblrs750649426
gopubmedrs750649426
geneviewrs750649426
scholarrs750649426
googlers750649426
pharmgkbrs750649426
gwascentralrs750649426
openSNPrs750649426
23andMers750649426
23andMe allrs750649426
SNP Nexus

SNPshotrs750649426
SNPdbers750649426
MSV3drs750649426
GWAS Ctlgrs750649426
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 rs750649426(A;A)
Alt rs750649426(A;A)
Reference rs750649426(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222305C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237256.1,