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rs373822756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs373822756(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105568
GeneLDLR
is asnp
is mentioned by
dbSNPrs373822756
ebirs373822756
HLIrs373822756
Exacrs373822756
Varsomers373822756
Maprs373822756
PheGenIrs373822756
hapmaprs373822756
1000 genomesrs373822756
hgdprs373822756
ensemblrs373822756
gopubmedrs373822756
geneviewrs373822756
scholarrs373822756
googlers373822756
pharmgkbrs373822756
gwascentralrs373822756
openSNPrs373822756
23andMers373822756
23andMe allrs373822756
SNP Nexus

SNPshotrs373822756
SNPdbers373822756
MSV3drs373822756
GWAS Ctlgrs373822756
Max Magnitude4
aka c.662A>G (p.Asp221Gly)

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 rs373822756(G,T;G,T)
Alt rs373822756(G,T;G,T)
Reference rs373822756(A;A)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216244A>G; NC_000019.9:g.11216244A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161962.1, RCV000211655.2, RCV000237487.1,