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rs879254820

From SNPedia

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


Make rs879254820(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11111639
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254820
dbSNP (classic)rs879254820
ClinGenrs879254820
ebirs879254820
HLIrs879254820
Exacrs879254820
Gnomadrs879254820
Varsomers879254820
LitVarrs879254820
Maprs879254820
PheGenIrs879254820
Biobankrs879254820
1000 genomesrs879254820
hgdprs879254820
ensemblrs879254820
geneviewrs879254820
scholarrs879254820
googlers879254820
pharmgkbrs879254820
gwascentralrs879254820
openSNPrs879254820
23andMers879254820
23andMe allrs879254820
SNPshotrs879254820
SNPdbers879254820
MSV3drs879254820
GWAS Ctlgrs879254820
Max Magnitude5
ClinVar
Risk rs879254820(A;A)
Alt rs879254820(A;A)
Reference Rs879254820(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222315G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238296.2,