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rs879255059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs879255059(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11120110
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255059
dbSNP (classic)rs879255059
ClinGenrs879255059
ebirs879255059
HLIrs879255059
Exacrs879255059
Gnomadrs879255059
Varsomers879255059
LitVarrs879255059
Maprs879255059
PheGenIrs879255059
Biobankrs879255059
1000 genomesrs879255059
hgdprs879255059
ensemblrs879255059
geneviewrs879255059
scholarrs879255059
googlers879255059
pharmgkbrs879255059
gwascentralrs879255059
openSNPrs879255059
23andMers879255059
23andMe allrs879255059
SNPshotrs879255059
SNPdbers879255059
MSV3drs879255059
GWAS Ctlgrs879255059
Max Magnitude5
ClinVar
Risk rs879255059(A;A)
Alt rs879255059(A;A)
Reference Rs879255059(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230786G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238037.1,