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rs1064792905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AGGAAAACTGCG) 5 Familial Hypercholesterolemia
(AGGAAAACTGCG;AGGAAAACTGCG) 0 common/normal
(CGAGGAAAACTG;CGAGGAAAACTG) 0 common in clinvar
Chromosome19
Position11105589
GeneLDLR
is asnp
is mentioned by
dbSNPrs1064792905
dbSNP (old)rs1064792905
ClinGenrs1064792905
ebirs1064792905
HLIrs1064792905
Exacrs1064792905
Gnomadrs1064792905
Varsomers1064792905
LitVarrs1064792905
Maprs1064792905
PheGenIrs1064792905
Biobankrs1064792905
1000 genomesrs1064792905
hgdprs1064792905
ensemblrs1064792905
gopubmedrs1064792905
geneviewrs1064792905
scholarrs1064792905
googlers1064792905
pharmgkbrs1064792905
gwascentralrs1064792905
openSNPrs1064792905
23andMers1064792905
23andMe allrs1064792905
SNPshotrs1064792905
SNPdbers1064792905
MSV3drs1064792905
GWAS Ctlgrs1064792905
Max Magnitude5
ClinVar
Risk rs1064792905(-;-)
Alt rs1064792905(-;-)
Reference Rs1064792905(CGAGGAAAACTG;CGAGGAAAACTG)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216265_11216276delAGGAAAACTGCG
CLNSRC
CLNACC RCV000454717.1,