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rs879255010

From SNPedia

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


Make rs879255010(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116903
GeneLDLR
is asnp
is mentioned by
dbSNPrs879255010
dbSNP (classic)rs879255010
ClinGenrs879255010
ebirs879255010
HLIrs879255010
Exacrs879255010
Gnomadrs879255010
Varsomers879255010
LitVarrs879255010
Maprs879255010
PheGenIrs879255010
Biobankrs879255010
1000 genomesrs879255010
hgdprs879255010
ensemblrs879255010
geneviewrs879255010
scholarrs879255010
googlers879255010
pharmgkbrs879255010
gwascentralrs879255010
openSNPrs879255010
23andMers879255010
23andMe allrs879255010
SNPshotrs879255010
SNPdbers879255010
MSV3drs879255010
GWAS Ctlgrs879255010
Max Magnitude5
ClinVar
Risk rs879255010(C;C)
Alt rs879255010(C;C)
Reference Rs879255010(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227579T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238337.1,