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rs1057519679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GCCA) 5 Familial Hypercholesterolemia
(CCAG;CCAG) 0 common in clinvar
(GCCA;GCCA) 0 common/normal
Chromosome19
Position11120226
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519679
dbSNP (old)rs1057519679
ClinGenrs1057519679
ebirs1057519679
HLIrs1057519679
Exacrs1057519679
Gnomadrs1057519679
Varsomers1057519679
Maprs1057519679
PheGenIrs1057519679
Biobankrs1057519679
1000 genomesrs1057519679
hgdprs1057519679
ensemblrs1057519679
gopubmedrs1057519679
geneviewrs1057519679
scholarrs1057519679
googlers1057519679
pharmgkbrs1057519679
gwascentralrs1057519679
openSNPrs1057519679
23andMers1057519679
23andMe allrs1057519679
SNPshotrs1057519679
SNPdbers1057519679
MSV3drs1057519679
GWAS Ctlgrs1057519679
Max Magnitude5
ClinVar
Risk rs1057519679(-;-)
Alt rs1057519679(-;-)
Reference Rs1057519679(CCAG;CCAG)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230902_11230905delGCCA
CLNSRC
CLNACC RCV000417358.1,