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

rs1057519681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 5 Familial Hypercholesterolemia
Chromosome19
Position11120450
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519681
dbSNP (old)rs1057519681
ClinGenrs1057519681
ebirs1057519681
HLIrs1057519681
Exacrs1057519681
Gnomadrs1057519681
Varsomers1057519681
LitVarrs1057519681
Maprs1057519681
PheGenIrs1057519681
Biobankrs1057519681
1000 genomesrs1057519681
hgdprs1057519681
ensemblrs1057519681
gopubmedrs1057519681
geneviewrs1057519681
scholarrs1057519681
googlers1057519681
pharmgkbrs1057519681
gwascentralrs1057519681
openSNPrs1057519681
23andMers1057519681
23andMe allrs1057519681
SNPshotrs1057519681
SNPdbers1057519681
MSV3drs1057519681
GWAS Ctlgrs1057519681
Max Magnitude5
ClinVar
Risk rs1057519681(C;C)
Alt rs1057519681(C;C)
Reference Rs1057519681(-;-)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231126dupC
CLNSRC
CLNACC RCV000417349.1,