rs1060499919
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Chromosome | 19 |
Position | 11105435 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs1060499919 |
dbSNP (classic) | rs1060499919 |
ClinGen | rs1060499919 |
ebi | rs1060499919 |
HLI | rs1060499919 |
Exac | rs1060499919 |
Gnomad | rs1060499919 |
Varsome | rs1060499919 |
LitVar | rs1060499919 |
Map | rs1060499919 |
PheGenI | rs1060499919 |
Biobank | rs1060499919 |
1000 genomes | rs1060499919 |
hgdp | rs1060499919 |
ensembl | rs1060499919 |
geneview | rs1060499919 |
scholar | rs1060499919 |
rs1060499919 | |
pharmgkb | rs1060499919 |
gwascentral | rs1060499919 |
openSNP | rs1060499919 |
23andMe | rs1060499919 |
SNPshot | rs1060499919 |
SNPdbe | rs1060499919 |
MSV3d | rs1060499919 |
GWAS Ctlg | rs1060499919 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs1060499919(C;C) |
Alt | rs1060499919(C;C) |
Reference | Rs1060499919(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11216111T>C |
CLNSRC | |
CLNACC | RCV000455946.1, |