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rs368838866

From SNPedia

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


Make rs368838866(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120483
GeneLDLR
is asnp
is mentioned by
dbSNPrs368838866
ebirs368838866
HLIrs368838866
Exacrs368838866
Varsomers368838866
Maprs368838866
PheGenIrs368838866
hapmaprs368838866
1000 genomesrs368838866
hgdprs368838866
ensemblrs368838866
gopubmedrs368838866
geneviewrs368838866
scholarrs368838866
googlers368838866
pharmgkbrs368838866
gwascentralrs368838866
openSNPrs368838866
23andMers368838866
23andMe allrs368838866
SNP Nexus

SNPshotrs368838866
SNPdbers368838866
MSV3drs368838866
GWAS Ctlgrs368838866
Max Magnitude4
aka c.2101G>A (p.Gly701Ser)

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]

Note: in 2015 (prior to the publication cited above), a ClinVar submitter evaluated this variant as "likely benign".


ClinVar
Risk rs368838866(A;A)
Alt rs368838866(A;A)
Reference rs368838866(G;G)
Significance Probable-non-pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231159G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000162008.2, RCV000238415.1,