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rs879254874

From SNPedia

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


Make rs879254874(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113443
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254874
dbSNP (classic)rs879254874
ClinGenrs879254874
ebirs879254874
HLIrs879254874
Exacrs879254874
Gnomadrs879254874
Varsomers879254874
LitVarrs879254874
Maprs879254874
PheGenIrs879254874
Biobankrs879254874
1000 genomesrs879254874
hgdprs879254874
ensemblrs879254874
geneviewrs879254874
scholarrs879254874
googlers879254874
pharmgkbrs879254874
gwascentralrs879254874
openSNPrs879254874
23andMers879254874
SNPshotrs879254874
SNPdbers879254874
MSV3drs879254874
GWAS Ctlgrs879254874
Max Magnitude5
ClinVar
Risk rs879254874(C;C)
Alt rs879254874(C;C)
Reference Rs879254874(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224119T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238589.2,