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rs1060499921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Familial Hypercholesterolemia
Chromosome19
Position11111630
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs1060499921
dbSNP (classic)rs1060499921
ClinGenrs1060499921
ebirs1060499921
HLIrs1060499921
Exacrs1060499921
Gnomadrs1060499921
Varsomers1060499921
LitVarrs1060499921
Maprs1060499921
PheGenIrs1060499921
Biobankrs1060499921
1000 genomesrs1060499921
hgdprs1060499921
ensemblrs1060499921
geneviewrs1060499921
scholarrs1060499921
googlers1060499921
pharmgkbrs1060499921
gwascentralrs1060499921
openSNPrs1060499921
23andMers1060499921
SNPshotrs1060499921
SNPdbers1060499921
MSV3drs1060499921
GWAS Ctlgrs1060499921
Max Magnitude5
ClinVar
Risk rs1060499921(C;C)
Alt rs1060499921(C;C)
Reference Rs1060499921(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222306A>C
CLNSRC
CLNACC RCV000454806.1,