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rs879254865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Familial Hypercholesterolemia
Make rs879254865(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113417
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254865
dbSNP (classic)rs879254865
ClinGenrs879254865
ebirs879254865
HLIrs879254865
Exacrs879254865
Gnomadrs879254865
Varsomers879254865
LitVarrs879254865
Maprs879254865
PheGenIrs879254865
Biobankrs879254865
1000 genomesrs879254865
hgdprs879254865
ensemblrs879254865
geneviewrs879254865
scholarrs879254865
googlers879254865
pharmgkbrs879254865
gwascentralrs879254865
openSNPrs879254865
23andMers879254865
23andMe allrs879254865
SNPshotrs879254865
SNPdbers879254865
MSV3drs879254865
GWAS Ctlgrs879254865
Max Magnitude5
ClinVar
Risk rs879254865(G;G) rs879254865(T;T)
Alt rs879254865(G;G) rs879254865(T;T)
Reference Rs879254865(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224093C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237269.1,