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rs1057516135

From SNPedia

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


Make rs1057516135(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11105373
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057516135
dbSNP (old)rs1057516135
ClinGenrs1057516135
ebirs1057516135
HLIrs1057516135
Exacrs1057516135
Gnomadrs1057516135
Varsomers1057516135
LitVarrs1057516135
Maprs1057516135
PheGenIrs1057516135
Biobankrs1057516135
1000 genomesrs1057516135
hgdprs1057516135
ensemblrs1057516135
gopubmedrs1057516135
geneviewrs1057516135
scholarrs1057516135
googlers1057516135
pharmgkbrs1057516135
gwascentralrs1057516135
openSNPrs1057516135
23andMers1057516135
23andMe allrs1057516135
SNPshotrs1057516135
SNPdbers1057516135
MSV3drs1057516135
GWAS Ctlgrs1057516135
Max Magnitude5
ClinVar
Risk rs1057516135(-;-)
Alt rs1057516135(-;-)
Reference Rs1057516135(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216049delA
CLNSRC
CLNACC RCV000408765.1,