Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AATCTGACGA) 5 Familial Hypercholesterolemia
(AAATCTGACG;AAATCTGACG) 0 common in clinvar
(AATCTGACGA;AATCTGACGA) 0 common/normal
Chromosome19
Position11105580
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519659
dbSNP (old)rs1057519659
ClinGenrs1057519659
ebirs1057519659
HLIrs1057519659
Exacrs1057519659
Gnomadrs1057519659
Varsomers1057519659
Maprs1057519659
PheGenIrs1057519659
Biobankrs1057519659
1000 genomesrs1057519659
hgdprs1057519659
ensemblrs1057519659
gopubmedrs1057519659
geneviewrs1057519659
scholarrs1057519659
googlers1057519659
pharmgkbrs1057519659
gwascentralrs1057519659
openSNPrs1057519659
23andMers1057519659
23andMe allrs1057519659
SNPshotrs1057519659
SNPdbers1057519659
MSV3drs1057519659
GWAS Ctlgrs1057519659
Max Magnitude5
ClinVar
Risk rs1057519659(-;-)
Alt rs1057519659(-;-)
Reference Rs1057519659(AAATCTGACG;AAATCTGACG)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216256_11216265delAATCTGACGA
CLNSRC
CLNACC RCV000417283.1,