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rs753430282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs753430282(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116914
GeneLDLR
is asnp
is mentioned by
dbSNPrs753430282
ebirs753430282
HLIrs753430282
Exacrs753430282
Varsomers753430282
Maprs753430282
PheGenIrs753430282
hapmaprs753430282
1000 genomesrs753430282
hgdprs753430282
ensemblrs753430282
gopubmedrs753430282
geneviewrs753430282
scholarrs753430282
googlers753430282
pharmgkbrs753430282
gwascentralrs753430282
openSNPrs753430282
23andMers753430282
23andMe allrs753430282
SNP Nexus

SNPshotrs753430282
SNPdbers753430282
MSV3drs753430282
GWAS Ctlgrs753430282
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 rs753430282(G,T;G,T)
Alt rs753430282(G,T;G,T)
Reference rs753430282(C;C)
Significance Unknown
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227590C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238260.1,