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rs879254866

From SNPedia

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


Make rs879254866(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113419
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254866
dbSNP (classic)rs879254866
ClinGenrs879254866
ebirs879254866
HLIrs879254866
Exacrs879254866
Gnomadrs879254866
Varsomers879254866
LitVarrs879254866
Maprs879254866
PheGenIrs879254866
Biobankrs879254866
1000 genomesrs879254866
hgdprs879254866
ensemblrs879254866
geneviewrs879254866
scholarrs879254866
googlers879254866
pharmgkbrs879254866
gwascentralrs879254866
openSNPrs879254866
23andMers879254866
23andMe allrs879254866
SNPshotrs879254866
SNPdbers879254866
MSV3drs879254866
GWAS Ctlgrs879254866
Max Magnitude5
ClinVar
Risk rs879254866(A;A) rs879254866(C;C)
Alt rs879254866(A;A) rs879254866(C;C)
Reference Rs879254866(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224095G>A; NC_000019.9:g.11224095G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237680.1, RCV000238264.1,