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rs1057519674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TG) 5 Familial Hypercholesterolemia
(GT;GT) 0 common in clinvar
(TG;TG) 0 common/normal
Chromosome19
Position11113747
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs1057519674
dbSNP (classic)rs1057519674
ClinGenrs1057519674
ebirs1057519674
HLIrs1057519674
Exacrs1057519674
Gnomadrs1057519674
Varsomers1057519674
LitVarrs1057519674
Maprs1057519674
PheGenIrs1057519674
Biobankrs1057519674
1000 genomesrs1057519674
hgdprs1057519674
ensemblrs1057519674
geneviewrs1057519674
scholarrs1057519674
googlers1057519674
pharmgkbrs1057519674
gwascentralrs1057519674
openSNPrs1057519674
23andMers1057519674
SNPshotrs1057519674
SNPdbers1057519674
MSV3drs1057519674
GWAS Ctlgrs1057519674
Max Magnitude5
ClinVar
Risk rs1057519674(-;-)
Alt rs1057519674(-;-)
Reference Rs1057519674(GT;GT)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224423_11224424delTG
CLNSRC
CLNACC RCV000417352.1,