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rs1057519675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Chromosome19
Position11116891
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519675
dbSNP (classic)rs1057519675
ClinGenrs1057519675
ebirs1057519675
HLIrs1057519675
Exacrs1057519675
Gnomadrs1057519675
Varsomers1057519675
LitVarrs1057519675
Maprs1057519675
PheGenIrs1057519675
Biobankrs1057519675
1000 genomesrs1057519675
hgdprs1057519675
ensemblrs1057519675
geneviewrs1057519675
scholarrs1057519675
googlers1057519675
pharmgkbrs1057519675
gwascentralrs1057519675
openSNPrs1057519675
23andMers1057519675
23andMe allrs1057519675
SNPshotrs1057519675
SNPdbers1057519675
MSV3drs1057519675
GWAS Ctlgrs1057519675
Max Magnitude5
ClinVar
Risk rs1057519675(C;C)
Alt rs1057519675(C;C)
Reference Rs1057519675(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227567T>C
CLNSRC
CLNACC RCV000417299.1,