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rs879254932

From SNPedia

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


Make rs879254932(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113708
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254932
dbSNP (classic)rs879254932
ClinGenrs879254932
ebirs879254932
HLIrs879254932
Exacrs879254932
Gnomadrs879254932
Varsomers879254932
LitVarrs879254932
Maprs879254932
PheGenIrs879254932
Biobankrs879254932
1000 genomesrs879254932
hgdprs879254932
ensemblrs879254932
geneviewrs879254932
scholarrs879254932
googlers879254932
pharmgkbrs879254932
gwascentralrs879254932
openSNPrs879254932
23andMers879254932
SNPshotrs879254932
SNPdbers879254932
MSV3drs879254932
GWAS Ctlgrs879254932
Max Magnitude5
ClinVar
Risk rs879254932(C;C) rs879254932(G;G)
Alt rs879254932(C;C) rs879254932(G;G)
Reference Rs879254932(T;T)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224384T>C; NC_000019.9:g.11224384T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238162.1, RCV000237240.1,