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rs570942190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs570942190(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113337
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs570942190
ebirs570942190
HLIrs570942190
Exacrs570942190
Varsomers570942190
Maprs570942190
PheGenIrs570942190
hapmaprs570942190
1000 genomesrs570942190
hgdprs570942190
ensemblrs570942190
gopubmedrs570942190
geneviewrs570942190
scholarrs570942190
googlers570942190
pharmgkbrs570942190
gwascentralrs570942190
openSNPrs570942190
23andMers570942190
23andMe allrs570942190
SNP Nexus

SNPshotrs570942190
SNPdbers570942190
MSV3drs570942190
GWAS Ctlgrs570942190
Max Magnitude4
aka c.1246C>T (p.Arg416Trp)

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 rs570942190(T;T)
Alt rs570942190(T;T)
Reference rs570942190(C;C)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224013C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161982.1, RCV000211633.2,