Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ACCCCA) 5 Familial Hypercholesterolemia
(ACCCCA;ACCCCA) 0 common in clinvar
Chromosome19
Position11089394
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519648
dbSNP (old)rs1057519648
ClinGenrs1057519648
ebirs1057519648
HLIrs1057519648
Exacrs1057519648
Gnomadrs1057519648
Varsomers1057519648
LitVarrs1057519648
Maprs1057519648
PheGenIrs1057519648
Biobankrs1057519648
1000 genomesrs1057519648
hgdprs1057519648
ensemblrs1057519648
gopubmedrs1057519648
geneviewrs1057519648
scholarrs1057519648
googlers1057519648
pharmgkbrs1057519648
gwascentralrs1057519648
openSNPrs1057519648
23andMers1057519648
23andMe allrs1057519648
SNPshotrs1057519648
SNPdbers1057519648
MSV3drs1057519648
GWAS Ctlgrs1057519648
Max Magnitude5
ClinVar
Risk rs1057519648(-;-)
Alt rs1057519648(-;-)
Reference Rs1057519648(ACCCCA;ACCCCA)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200070_11200075delACCCCA
CLNSRC
CLNACC RCV000417311.1,