Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10520597
rs10520597
AKAP13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs12907384
rs12907384
AKAP13
CUI: C0424678
Disease: Lean body mass
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
AKAP13
CUI: C0871470
Disease: Systolic Pressure
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
AKAP13
CUI: C0005612
Disease: Birth Weight
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: rs16941432
rs16941432
AKAP13
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		A 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980

2013
dbSNP: rs2169876
rs2169876
AKAP13
CUI: C0877208
Disease: Peripartum cardiomyopathy
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: rs2169877
rs2169877
AKAP13
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		A 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980

2013
dbSNP: rs2880765
rs2880765
AKAP13
CUI: C1956346
Disease: Coronary Artery 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: rs338533
rs338533
AKAP13
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs56241813
rs56241813
AKAP13
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs62022112
rs62022112
AKAP13
CUI: C0040420
Disease: Tonometry
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998

2018
dbSNP: rs62024517
rs62024517
AKAP13
CUI: C0040420
Disease: Tonometry
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998

2018
dbSNP: rs74346567
rs74346567
AKAP13
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
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: rs34434221
rs34434221
AKAP13
CUI: C0346153
Disease: Breast Cancer, Familial
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
AKAP13
CUI: C0346153
Disease: Breast Cancer, Familial
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: rs2241268
rs2241268
AKAP13
CUI: C0346153
Disease: Breast Cancer, Familial
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: rs34434221
rs34434221
AKAP13
CUI: C0006142
Disease: Malignant neoplasm of breast
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
AKAP13
CUI: C0678222
Disease: Breast Carcinoma
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: rs4843075
rs4843075
AKAP13
CUI: C0346153
Disease: Breast Cancer, Familial
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