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rs1057516129

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


Make rs1057516129(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11102706
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516129
dbSNP (old)rs1057516129
ClinGenrs1057516129
ebirs1057516129
HLIrs1057516129
Exacrs1057516129
Gnomadrs1057516129
Varsomers1057516129
Maprs1057516129
PheGenIrs1057516129
Biobankrs1057516129
1000 genomesrs1057516129
hgdprs1057516129
ensemblrs1057516129
gopubmedrs1057516129
geneviewrs1057516129
scholarrs1057516129
googlers1057516129
pharmgkbrs1057516129
gwascentralrs1057516129
openSNPrs1057516129
23andMers1057516129
23andMe allrs1057516129
SNPshotrs1057516129
SNPdbers1057516129
MSV3drs1057516129
GWAS Ctlgrs1057516129
Max Magnitude5
ClinVar
Risk rs1057516129(-;-)
Alt rs1057516129(-;-)
Reference Rs1057516129(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213382delG
CLNSRC
CLNACC RCV000408851.1,