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rs201102492

From SNPedia

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


Make rs201102492(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116937
GeneLDLR
is asnp
is mentioned by
dbSNPrs201102492
ebirs201102492
HLIrs201102492
Exacrs201102492
Varsomers201102492
Maprs201102492
PheGenIrs201102492
hapmaprs201102492
1000 genomesrs201102492
hgdprs201102492
ensemblrs201102492
gopubmedrs201102492
geneviewrs201102492
scholarrs201102492
googlers201102492
pharmgkbrs201102492
gwascentralrs201102492
openSNPrs201102492
23andMers201102492
23andMe allrs201102492
SNP Nexus

SNPshotrs201102492
SNPdbers201102492
MSV3drs201102492
GWAS Ctlgrs201102492
Max Magnitude4
aka c.1784G>A (p.Arg595Gln)

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 rs201102492(A;A)
Alt rs201102492(A;A)
Reference rs201102492(G;G)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227613G>A; NC_000019.9:g.11227613G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000162002.1, RCV000211609.2, RCV000237727.1,