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rs1057519650

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
Chromosome19
Position11089450
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519650
dbSNP (old)rs1057519650
ClinGenrs1057519650
ebirs1057519650
HLIrs1057519650
Exacrs1057519650
Gnomadrs1057519650
Varsomers1057519650
Maprs1057519650
PheGenIrs1057519650
Biobankrs1057519650
1000 genomesrs1057519650
hgdprs1057519650
ensemblrs1057519650
gopubmedrs1057519650
geneviewrs1057519650
scholarrs1057519650
googlers1057519650
pharmgkbrs1057519650
gwascentralrs1057519650
openSNPrs1057519650
23andMers1057519650
23andMe allrs1057519650
SNPshotrs1057519650
SNPdbers1057519650
MSV3drs1057519650
GWAS Ctlgrs1057519650
Max Magnitude5
ClinVar
Risk rs1057519650(G;G)
Alt rs1057519650(G;G)
Reference Rs1057519650(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200126A>G
CLNSRC
CLNACC RCV000417306.1,