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rs1057516134

From SNPedia

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


Make rs1057516134(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11120124
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516134
dbSNP (classic)rs1057516134
ClinGenrs1057516134
ebirs1057516134
HLIrs1057516134
Exacrs1057516134
Gnomadrs1057516134
Varsomers1057516134
LitVarrs1057516134
Maprs1057516134
PheGenIrs1057516134
Biobankrs1057516134
1000 genomesrs1057516134
hgdprs1057516134
ensemblrs1057516134
geneviewrs1057516134
scholarrs1057516134
googlers1057516134
pharmgkbrs1057516134
gwascentralrs1057516134
openSNPrs1057516134
23andMers1057516134
23andMe allrs1057516134
SNPshotrs1057516134
SNPdbers1057516134
MSV3drs1057516134
GWAS Ctlgrs1057516134
Max Magnitude5
ClinVar
Risk rs1057516134(-;-)
Alt rs1057516134(-;-)
Reference Rs1057516134(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230800delA
CLNSRC
CLNACC RCV000408847.1,