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rs1057516130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 5 Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs1057516130(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11107479
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516130
dbSNP (old)rs1057516130
ClinGenrs1057516130
ebirs1057516130
HLIrs1057516130
Exacrs1057516130
Gnomadrs1057516130
Varsomers1057516130
Maprs1057516130
PheGenIrs1057516130
Biobankrs1057516130
1000 genomesrs1057516130
hgdprs1057516130
ensemblrs1057516130
gopubmedrs1057516130
geneviewrs1057516130
scholarrs1057516130
googlers1057516130
pharmgkbrs1057516130
gwascentralrs1057516130
openSNPrs1057516130
23andMers1057516130
23andMe allrs1057516130
SNPshotrs1057516130
SNPdbers1057516130
MSV3drs1057516130
GWAS Ctlgrs1057516130
Max Magnitude5
ClinVar
Risk rs1057516130(-;-)
Alt rs1057516130(-;-)
Reference Rs1057516130(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218155delG
CLNSRC
CLNACC RCV000408896.1,