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rs1057519665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GGTGAGTCTCGGTGC) 5 Familial Hypercholesterolemia
(GGTGAGTCTCGGTGC;GGTGAGTCTCGGTGC) 0 common/normal
(GTGCGGTGAGTCTCG;GTGCGGTGAGTCTCG) 0 common in clinvar
Chromosome19
Position11107514
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519665
dbSNP (classic)rs1057519665
ClinGenrs1057519665
ebirs1057519665
HLIrs1057519665
Exacrs1057519665
Gnomadrs1057519665
Varsomers1057519665
LitVarrs1057519665
Maprs1057519665
PheGenIrs1057519665
Biobankrs1057519665
1000 genomesrs1057519665
hgdprs1057519665
ensemblrs1057519665
geneviewrs1057519665
scholarrs1057519665
googlers1057519665
pharmgkbrs1057519665
gwascentralrs1057519665
openSNPrs1057519665
23andMers1057519665
23andMe allrs1057519665
SNPshotrs1057519665
SNPdbers1057519665
MSV3drs1057519665
GWAS Ctlgrs1057519665
Max Magnitude5
ClinVar
Risk rs1057519665(-;-)
Alt rs1057519665(-;-)
Reference Rs1057519665(GTGCGGTGAGTCTCG;GTGCGGTGAGTCTCG)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218190_11218204delGGTGAGTCTCGGTGC
CLNSRC
CLNACC RCV000417307.1,