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rs1057519664

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Familial Hypercholesterolemia
Chromosome19
Position11107498
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519664
dbSNP (old)rs1057519664
ClinGenrs1057519664
ebirs1057519664
HLIrs1057519664
Exacrs1057519664
Gnomadrs1057519664
Varsomers1057519664
Maprs1057519664
PheGenIrs1057519664
Biobankrs1057519664
1000 genomesrs1057519664
hgdprs1057519664
ensemblrs1057519664
gopubmedrs1057519664
geneviewrs1057519664
scholarrs1057519664
googlers1057519664
pharmgkbrs1057519664
gwascentralrs1057519664
openSNPrs1057519664
23andMers1057519664
23andMe allrs1057519664
SNPshotrs1057519664
SNPdbers1057519664
MSV3drs1057519664
GWAS Ctlgrs1057519664
Max Magnitude5
ClinVar
Risk rs1057519664(T;T)
Alt rs1057519664(T;T)
Reference Rs1057519664(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218174A>T
CLNSRC
CLNACC RCV000417243.1,