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rs201573863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs201573863(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120478
GeneLDLR
is asnp
is mentioned by
dbSNPrs201573863
ebirs201573863
HLIrs201573863
Exacrs201573863
Varsomers201573863
Maprs201573863
PheGenIrs201573863
hapmaprs201573863
1000 genomesrs201573863
hgdprs201573863
ensemblrs201573863
gopubmedrs201573863
geneviewrs201573863
scholarrs201573863
googlers201573863
pharmgkbrs201573863
gwascentralrs201573863
openSNPrs201573863
23andMers201573863
23andMe allrs201573863
SNP Nexus

SNPshotrs201573863
SNPdbers201573863
MSV3drs201573863
GWAS Ctlgrs201573863
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 rs201573863(T;T)
Alt rs201573863(T;T)
Reference rs201573863(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231154C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237906.1,