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rs1057519682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 5 Familial Hypercholesterolemia
Make rs1057519682(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11120460
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519682
dbSNP (old)rs1057519682
ClinGenrs1057519682
ebirs1057519682
HLIrs1057519682
Exacrs1057519682
Gnomadrs1057519682
Varsomers1057519682
Maprs1057519682
PheGenIrs1057519682
Biobankrs1057519682
1000 genomesrs1057519682
hgdprs1057519682
ensemblrs1057519682
gopubmedrs1057519682
geneviewrs1057519682
scholarrs1057519682
googlers1057519682
pharmgkbrs1057519682
gwascentralrs1057519682
openSNPrs1057519682
23andMers1057519682
23andMe allrs1057519682
SNPshotrs1057519682
SNPdbers1057519682
MSV3drs1057519682
GWAS Ctlgrs1057519682
Max Magnitude5
ClinVar
Risk rs1057519682(A;A)
Alt rs1057519682(A;A)
Reference Rs1057519682(-;-)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231136dupA
CLNSRC
CLNACC RCV000417295.1,