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rs1057519653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TGCATTC) 5 Familial Hypercholesterolemia
Chromosome19
Position11102723
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519653
dbSNP (classic)rs1057519653
ClinGenrs1057519653
ebirs1057519653
HLIrs1057519653
Exacrs1057519653
Gnomadrs1057519653
Varsomers1057519653
LitVarrs1057519653
Maprs1057519653
PheGenIrs1057519653
Biobankrs1057519653
1000 genomesrs1057519653
hgdprs1057519653
ensemblrs1057519653
geneviewrs1057519653
scholarrs1057519653
googlers1057519653
pharmgkbrs1057519653
gwascentralrs1057519653
openSNPrs1057519653
23andMers1057519653
23andMe allrs1057519653
SNPshotrs1057519653
SNPdbers1057519653
MSV3drs1057519653
GWAS Ctlgrs1057519653
Max Magnitude5
ClinVar
Risk rs1057519653(CTGCATT;CTGCATT)
Alt rs1057519653(CTGCATT;CTGCATT)
Reference Rs1057519653(-;-)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213393_11213399dupTGCATTC
CLNSRC
CLNACC RCV000417264.1,