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rs773618064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs773618064(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11129534
GeneLDLR
is asnp
is mentioned by
dbSNPrs773618064
dbSNP (old)rs773618064
ClinGenrs773618064
ebirs773618064
HLIrs773618064
Exacrs773618064
Gnomadrs773618064
Varsomers773618064
Maprs773618064
PheGenIrs773618064
Biobankrs773618064
1000 genomesrs773618064
hgdprs773618064
ensemblrs773618064
gopubmedrs773618064
geneviewrs773618064
scholarrs773618064
googlers773618064
pharmgkbrs773618064
gwascentralrs773618064
openSNPrs773618064
23andMers773618064
23andMe allrs773618064
SNP Nexus

SNPshotrs773618064
SNPdbers773618064
MSV3drs773618064
GWAS Ctlgrs773618064
Merged fromRs879255206
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 rs773618064(G;G)
Alt rs773618064(G;G)
Reference Rs773618064(-;-)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11240215dupG
CLNSRC LDLR @ LOVD
CLNACC RCV000238458.4, RCV000486216.1,