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rs879255224

From SNPedia

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


Make rs879255224(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11129671
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255224
dbSNP (classic)rs879255224
ClinGenrs879255224
ebirs879255224
HLIrs879255224
Exacrs879255224
Gnomadrs879255224
Varsomers879255224
LitVarrs879255224
Maprs879255224
PheGenIrs879255224
Biobankrs879255224
1000 genomesrs879255224
hgdprs879255224
ensemblrs879255224
geneviewrs879255224
scholarrs879255224
googlers879255224
pharmgkbrs879255224
gwascentralrs879255224
openSNPrs879255224
23andMers879255224
23andMe allrs879255224
SNPshotrs879255224
SNPdbers879255224
MSV3drs879255224
GWAS Ctlgrs879255224
Max Magnitude5
ClinVar
Risk rs879255224(A;A)
Alt rs879255224(A;A)
Reference Rs879255224(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240347G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237756.2,