rs1057519663
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Familial Hypercholesterolemia |
(C;C) | 0 | common in clinvar |
Make rs1057519663(A;A) |
Chromosome | 19 |
Position | 11106653 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs1057519663 |
dbSNP (classic) | rs1057519663 |
ClinGen | rs1057519663 |
ebi | rs1057519663 |
HLI | rs1057519663 |
Exac | rs1057519663 |
Gnomad | rs1057519663 |
Varsome | rs1057519663 |
LitVar | rs1057519663 |
Map | rs1057519663 |
PheGenI | rs1057519663 |
Biobank | rs1057519663 |
1000 genomes | rs1057519663 |
hgdp | rs1057519663 |
ensembl | rs1057519663 |
geneview | rs1057519663 |
scholar | rs1057519663 |
rs1057519663 | |
pharmgkb | rs1057519663 |
gwascentral | rs1057519663 |
openSNP | rs1057519663 |
23andMe | rs1057519663 |
SNPshot | rs1057519663 |
SNPdbe | rs1057519663 |
MSV3d | rs1057519663 |
GWAS Ctlg | rs1057519663 |
Max Magnitude | 5 |
aka c.783C>A (p.Cys261Ter)
ClinVar | |
---|---|
Risk | rs1057519663(A;A) |
Alt | rs1057519663(A;A) |
Reference | Rs1057519663(C;C) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11217329C>A |
CLNSRC | |
CLNACC | RCV000417302.1, |