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rs1060499930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Chromosome19
Position11129530
GeneLDLR
is asnp
is mentioned by
dbSNPrs1060499930
dbSNP (old)rs1060499930
ClinGenrs1060499930
ebirs1060499930
HLIrs1060499930
Exacrs1060499930
Gnomadrs1060499930
Varsomers1060499930
LitVarrs1060499930
Maprs1060499930
PheGenIrs1060499930
Biobankrs1060499930
1000 genomesrs1060499930
hgdprs1060499930
ensemblrs1060499930
gopubmedrs1060499930
geneviewrs1060499930
scholarrs1060499930
googlers1060499930
pharmgkbrs1060499930
gwascentralrs1060499930
openSNPrs1060499930
23andMers1060499930
23andMe allrs1060499930
SNPshotrs1060499930
SNPdbers1060499930
MSV3drs1060499930
GWAS Ctlgrs1060499930
Max Magnitude5
ClinVar
Risk rs1060499930(C;C)
Alt rs1060499930(C;C)
Reference Rs1060499930(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240206T>C
CLNSRC
CLNACC RCV000455120.1,