rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
GWASCAT |
Sex specific associations in genome wide association analysis of renal cell carcinoma.
|
31231134 |
2019 |
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
|
28598434 |
2017 |
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06).
|
26551148 |
2016 |
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
No significant association between rs7579899 or rs7105934 and RCC risk was observed.
|
22131124 |
2012 |
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
GWASCAT |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
GWASDB |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
rs7579899
|
|
Renal Cell Carcinoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
rs11894252
|
|
Renal Cell Carcinoma
|
|
0.810 |
GeneticVariation
|
GWASCAT |
Sex specific associations in genome wide association analysis of renal cell carcinoma.
|
31231134 |
2019 |
rs11894252
|
|
Renal Cell Carcinoma
|
|
0.810 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
|
28598434 |
2017 |
rs11894252
|
|
Renal Cell Carcinoma
|
|
0.810 |
GeneticVariation
|
GWASDB |
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
|
22010048 |
2012 |
rs11894252
|
|
Renal Cell Carcinoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
rs11894252
|
|
Renal Cell Carcinoma
|
|
0.810 |
GeneticVariation
|
GWASDB |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
rs137853036
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two new mutations in the HIF2A gene associated with erythrocytosis.
|
22367913 |
2012 |
rs137853036
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: familial erythrocytosis.
|
22274579 |
2012 |
rs137853036
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
|
19208626 |
2009 |
rs137853036
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
|
18184961 |
2008 |
rs137853036
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
rs137853036
|
|
Erythrocytosis, Familial, 4
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs137853036
|
|
Erythrocytosis, Familial, 4
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs137853037
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: familial erythrocytosis.
|
22274579 |
2012 |
rs137853037
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two new mutations in the HIF2A gene associated with erythrocytosis.
|
22367913 |
2012 |
rs137853037
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
|
19208626 |
2009 |
rs137853037
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
|
18184961 |
2008 |
rs137853037
|
|
Erythrocytosis, Familial, 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
rs137853037
|
|
Erythrocytosis, Familial, 4
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|