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rs1057519671

From SNPedia

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


Make rs1057519671(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11113421
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs1057519671
dbSNP (classic)rs1057519671
ClinGenrs1057519671
ebirs1057519671
HLIrs1057519671
Exacrs1057519671
Gnomadrs1057519671
Varsomers1057519671
LitVarrs1057519671
Maprs1057519671
PheGenIrs1057519671
Biobankrs1057519671
1000 genomesrs1057519671
hgdprs1057519671
ensemblrs1057519671
geneviewrs1057519671
scholarrs1057519671
googlers1057519671
pharmgkbrs1057519671
gwascentralrs1057519671
openSNPrs1057519671
23andMers1057519671
SNPshotrs1057519671
SNPdbers1057519671
MSV3drs1057519671
GWAS Ctlgrs1057519671
Max Magnitude5
ClinVar
Risk rs1057519671(-;-)
Alt rs1057519671(-;-)
Reference Rs1057519671(T;T)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224097delT
CLNSRC
CLNACC RCV000417254.1,