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rs879254831

From SNPedia

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


Make rs879254831(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113298
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254831
dbSNP (classic)rs879254831
ClinGenrs879254831
ebirs879254831
HLIrs879254831
Exacrs879254831
Gnomadrs879254831
Varsomers879254831
LitVarrs879254831
Maprs879254831
PheGenIrs879254831
Biobankrs879254831
1000 genomesrs879254831
hgdprs879254831
ensemblrs879254831
geneviewrs879254831
scholarrs879254831
googlers879254831
pharmgkbrs879254831
gwascentralrs879254831
openSNPrs879254831
23andMers879254831
SNPshotrs879254831
SNPdbers879254831
MSV3drs879254831
GWAS Ctlgrs879254831
Max Magnitude5
ClinVar
Risk rs879254831(C;C)
Alt rs879254831(C;C)
Reference Rs879254831(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11223974T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238099.1,