AKAP13, A-kinase anchoring protein 13, 11214

N. diseases: 73; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10520597
rs10520597
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12907384
rs12907384
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0424678
Disease:
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs12909648
rs12909648
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs12909648
rs12909648
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs338533
rs338533
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs56241813
rs56241813
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2880765
rs2880765
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs62022112
rs62022112
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0040420
Disease:
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs62024517
rs62024517
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0040420
Disease:
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs74346567
rs74346567
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs16941432
rs16941432
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		A 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2169877
rs2169877
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		A 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2169876
rs2169876
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0877208
Disease:
Peripartum cardiomyopathy 		0.700 GeneticVariation GWASDB Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy. 21665988 2011
dbSNP: rs34434221
rs34434221
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0346153
Disease:
Breast Cancer, Familial 		0.020 GeneticVariation BEFREE Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58). 16956908 2007
dbSNP: rs34434221
rs34434221
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0346153
Disease:
Breast Cancer, Familial 		0.020 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258 2006
dbSNP: rs34434221
rs34434221
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). 16956908 2007
dbSNP: rs34434221
rs34434221
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). 16956908 2007
dbSNP: rs2241268
rs2241268
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0346153
Disease:
Breast Cancer, Familial 		0.010 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258 2006
dbSNP: rs4843075
rs4843075
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
CUI: C0346153
Disease:
Breast Cancer, Familial 		0.010 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258 2006