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rs879254834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Familial Hypercholesterolemia
(A;T) 5 Familial Hypercholesterolemia
Make rs879254834(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11113301
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs879254834
dbSNP (classic)rs879254834
ClinGenrs879254834
ebirs879254834
HLIrs879254834
Exacrs879254834
Gnomadrs879254834
Varsomers879254834
LitVarrs879254834
Maprs879254834
PheGenIrs879254834
Biobankrs879254834
1000 genomesrs879254834
hgdprs879254834
ensemblrs879254834
geneviewrs879254834
scholarrs879254834
googlers879254834
pharmgkbrs879254834
gwascentralrs879254834
openSNPrs879254834
23andMers879254834
SNPshotrs879254834
SNPdbers879254834
MSV3drs879254834
GWAS Ctlgrs879254834
Max Magnitude5
ClinVar
Risk rs879254834(C;C)
Alt rs879254834(C;C)
Reference Rs879254834(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11223977A>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238140.1,