Have questions? Visit https://www.reddit.com/r/SNPedia

rs879254914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
Make rs879254914(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113642
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254914
dbSNP (classic)rs879254914
ClinGenrs879254914
ebirs879254914
HLIrs879254914
Exacrs879254914
Gnomadrs879254914
Varsomers879254914
LitVarrs879254914
Maprs879254914
PheGenIrs879254914
Biobankrs879254914
1000 genomesrs879254914
hgdprs879254914
ensemblrs879254914
geneviewrs879254914
scholarrs879254914
googlers879254914
pharmgkbrs879254914
gwascentralrs879254914
openSNPrs879254914
23andMers879254914
SNPshotrs879254914
SNPdbers879254914
MSV3drs879254914
GWAS Ctlgrs879254914
Max Magnitude5
ClinVar
Risk rs879254914(G;G)
Alt rs879254914(G;G)
Reference Rs879254914(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224318A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237735.1,