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rs869025453

From SNPedia

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


Make rs869025453(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113654
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs869025453
ebirs869025453
HLIrs869025453
Exacrs869025453
Varsomers869025453
Maprs869025453
PheGenIrs869025453
hapmaprs869025453
1000 genomesrs869025453
hgdprs869025453
ensemblrs869025453
gopubmedrs869025453
geneviewrs869025453
scholarrs869025453
googlers869025453
pharmgkbrs869025453
gwascentralrs869025453
openSNPrs869025453
23andMers869025453
23andMe allrs869025453
SNP Nexus

SNPshotrs869025453
SNPdbers869025453
MSV3drs869025453
GWAS Ctlgrs869025453
Max Magnitude4
aka c.1478_1479delCT or p.Ser493Cysfs

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk rs869025453(;)
Alt rs869025453(;)
Reference rs869025453(CT;CT)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224330_11224331delCT
CLNSRC LDLR @ LOVD
CLNACC RCV000208069.2,