rs1057519657
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CGACTGC) | 5 | Familial Hypercholesterolemia |
Chromosome | 19 |
Position | 11105572 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs1057519657 |
dbSNP (classic) | rs1057519657 |
ClinGen | rs1057519657 |
ebi | rs1057519657 |
HLI | rs1057519657 |
Exac | rs1057519657 |
Gnomad | rs1057519657 |
Varsome | rs1057519657 |
LitVar | rs1057519657 |
Map | rs1057519657 |
PheGenI | rs1057519657 |
Biobank | rs1057519657 |
1000 genomes | rs1057519657 |
hgdp | rs1057519657 |
ensembl | rs1057519657 |
geneview | rs1057519657 |
scholar | rs1057519657 |
rs1057519657 | |
pharmgkb | rs1057519657 |
gwascentral | rs1057519657 |
openSNP | rs1057519657 |
23andMe | rs1057519657 |
SNPshot | rs1057519657 |
SNPdbe | rs1057519657 |
MSV3d | rs1057519657 |
GWAS Ctlg | rs1057519657 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs1057519657(CCGACTG;CCGACTG) |
Alt | rs1057519657(CCGACTG;CCGACTG) |
Reference | Rs1057519657(-;-) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11216242_11216248dupCGACTGC |
CLNSRC | |
CLNACC | RCV000417235.1, |