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rs1057519656

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TGCAAGGACAAATCTGAC) 5 Familial Hypercholesterolemia
(GACTGCAAGGACAAATCT;GACTGCAAGGACAAATCT) 0 common in clinvar
(TGCAAGGACAAATCTGAC;TGCAAGGACAAATCTGAC) 0 common/normal


Make rs1057519656(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11105570
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519656
dbSNP (old)rs1057519656
ClinGenrs1057519656
ebirs1057519656
HLIrs1057519656
Exacrs1057519656
Gnomadrs1057519656
Varsomers1057519656
Maprs1057519656
PheGenIrs1057519656
Biobankrs1057519656
1000 genomesrs1057519656
hgdprs1057519656
ensemblrs1057519656
gopubmedrs1057519656
geneviewrs1057519656
scholarrs1057519656
googlers1057519656
pharmgkbrs1057519656
gwascentralrs1057519656
openSNPrs1057519656
23andMers1057519656
23andMe allrs1057519656
SNPshotrs1057519656
SNPdbers1057519656
MSV3drs1057519656
GWAS Ctlgrs1057519656
Max Magnitude5
ClinVar
Risk rs1057519656(-;-)
Alt rs1057519656(-;-)
Reference Rs1057519656(GACTGCAAGGACAAATCT;GACTGCAAGGACAAATCT)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216246_11216263del18
CLNSRC
CLNACC RCV000417271.1,