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rs779940524

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs779940524(A;A)
Make rs779940524(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120182
GeneLDLR
is asnp
is mentioned by
dbSNPrs779940524
ebirs779940524
HLIrs779940524
Exacrs779940524
Varsomers779940524
Maprs779940524
PheGenIrs779940524
hapmaprs779940524
1000 genomesrs779940524
hgdprs779940524
ensemblrs779940524
gopubmedrs779940524
geneviewrs779940524
scholarrs779940524
googlers779940524
pharmgkbrs779940524
gwascentralrs779940524
openSNPrs779940524
23andMers779940524
23andMe allrs779940524
SNP Nexus

SNPshotrs779940524
SNPdbers779940524
MSV3drs779940524
GWAS Ctlgrs779940524
Max Magnitude0
ClinVar
Risk rs779940524(A;A)
Alt rs779940524(A;A)
Reference rs779940524(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230858C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238167.1,