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rs879255119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar


Make rs879255119(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11120427
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255119
dbSNP (classic)rs879255119
ClinGenrs879255119
ebirs879255119
HLIrs879255119
Exacrs879255119
Gnomadrs879255119
Varsomers879255119
LitVarrs879255119
Maprs879255119
PheGenIrs879255119
Biobankrs879255119
1000 genomesrs879255119
hgdprs879255119
ensemblrs879255119
geneviewrs879255119
scholarrs879255119
googlers879255119
pharmgkbrs879255119
gwascentralrs879255119
openSNPrs879255119
23andMers879255119
SNPshotrs879255119
SNPdbers879255119
MSV3drs879255119
GWAS Ctlgrs879255119
Max Magnitude5
ClinVar
Risk rs879255119(C;C)
Alt rs879255119(C;C)
Reference Rs879255119(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231103T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237612.1,