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rs769370816

From SNPedia

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


Make rs769370816(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116125
GeneLDLR
is asnp
is mentioned by
dbSNPrs769370816
dbSNP (old)rs769370816
ClinGenrs769370816
ebirs769370816
HLIrs769370816
Exacrs769370816
Gnomadrs769370816
Varsomers769370816
Maprs769370816
PheGenIrs769370816
Biobankrs769370816
1000 genomesrs769370816
hgdprs769370816
ensemblrs769370816
gopubmedrs769370816
geneviewrs769370816
scholarrs769370816
googlers769370816
pharmgkbrs769370816
gwascentralrs769370816
openSNPrs769370816
23andMers769370816
23andMe allrs769370816
SNP Nexus

SNPshotrs769370816
SNPdbers769370816
MSV3drs769370816
GWAS Ctlgrs769370816
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 27050191OA-icon.png]
ClinVar
Risk rs769370816(A;A) rs769370816(T;T)
Alt rs769370816(A;A) rs769370816(T;T)
Reference Rs769370816(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226801G>A; NC_000019.9:g.11226801G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000211624.7, RCV000237988.1,