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rs879254864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
Make rs879254864(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113416
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254864
dbSNP (classic)rs879254864
ClinGenrs879254864
ebirs879254864
HLIrs879254864
Exacrs879254864
Gnomadrs879254864
Varsomers879254864
LitVarrs879254864
Maprs879254864
PheGenIrs879254864
Biobankrs879254864
1000 genomesrs879254864
hgdprs879254864
ensemblrs879254864
geneviewrs879254864
scholarrs879254864
googlers879254864
pharmgkbrs879254864
gwascentralrs879254864
openSNPrs879254864
23andMers879254864
SNPshotrs879254864
SNPdbers879254864
MSV3drs879254864
GWAS Ctlgrs879254864
Max Magnitude5
ClinVar
Risk rs879254864(G;G)
Alt rs879254864(G;G)
Reference Rs879254864(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224092A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238215.3,