rs113068438
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs113068438(A;G) |
Make rs113068438(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 62475514 |
Gene | GATA5 |
is a | snp |
is | mentioned by |
dbSNP | rs113068438 |
dbSNP (classic) | rs113068438 |
ClinGen | rs113068438 |
ebi | rs113068438 |
HLI | rs113068438 |
Exac | rs113068438 |
Gnomad | rs113068438 |
Varsome | rs113068438 |
LitVar | rs113068438 |
Map | rs113068438 |
PheGenI | rs113068438 |
Biobank | rs113068438 |
1000 genomes | rs113068438 |
hgdp | rs113068438 |
ensembl | rs113068438 |
geneview | rs113068438 |
scholar | rs113068438 |
rs113068438 | |
pharmgkb | rs113068438 |
gwascentral | rs113068438 |
openSNP | rs113068438 |
23andMe | rs113068438 |
SNPshot | rs113068438 |
SNPdbe | rs113068438 |
MSV3d | rs113068438 |
GWAS Ctlg | rs113068438 |
Max Magnitude | 0 |
[PMID 24922888] 95 Identification Of Likely Pathogenic Variants In Patients With Bicuspid Aortic Valve: Correlation Of Complex Genotype With A More Severe Aortic Phenotype
ClinVar | |
---|---|
Risk | rs113068438(G;G) |
Alt | rs113068438(G;G) |
Reference | Rs113068438(A;A) |
Significance | Probable-non-pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | GATA5 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 1 |
HGVS | NC_000020.10:g.61050570T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000157239.1, |