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rs879254610

From SNPedia

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


Make rs879254610(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105552
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254610
dbSNP (old)rs879254610
ClinGenrs879254610
ebirs879254610
HLIrs879254610
Exacrs879254610
Gnomadrs879254610
Varsomers879254610
Maprs879254610
PheGenIrs879254610
Biobankrs879254610
1000 genomesrs879254610
hgdprs879254610
ensemblrs879254610
gopubmedrs879254610
geneviewrs879254610
scholarrs879254610
googlers879254610
pharmgkbrs879254610
gwascentralrs879254610
openSNPrs879254610
23andMers879254610
23andMe allrs879254610
SNPshotrs879254610
SNPdbers879254610
MSV3drs879254610
GWAS Ctlgrs879254610
Max Magnitude5
ClinVar
Risk rs879254610(C;C)
Alt rs879254610(C;C)
Reference Rs879254610(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216228T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238105.1,