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rs879254901

From SNPedia

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


Make rs879254901(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113614
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254901
dbSNP (classic)rs879254901
ClinGenrs879254901
ebirs879254901
HLIrs879254901
Exacrs879254901
Gnomadrs879254901
Varsomers879254901
LitVarrs879254901
Maprs879254901
PheGenIrs879254901
Biobankrs879254901
1000 genomesrs879254901
hgdprs879254901
ensemblrs879254901
geneviewrs879254901
scholarrs879254901
googlers879254901
pharmgkbrs879254901
gwascentralrs879254901
openSNPrs879254901
23andMers879254901
SNPshotrs879254901
SNPdbers879254901
MSV3drs879254901
GWAS Ctlgrs879254901
Max Magnitude5
ClinVar
Risk rs879254901(C;C)
Alt rs879254901(C;C)
Reference Rs879254901(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224290G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237678.1,