Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2412208
rs2412208
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Among the 4256 patients included in the analysis (2589 male [60.8%] and 1667 female [39.2%]; mean [SD] age at onset, 59 [12] years), the following 2 novel loci were significantly associated with ALS survival: at 10q23 (rs139550538; P = 1.87 × 10-9) and in the CAMTA1 gene at 1p36 (rs2412208, P = 3.53 × 10-8). 27244217 2016
dbSNP: rs10864294
rs10864294
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE Exploration of the identified genes for the presence of disease associated variants, using Affymetrix 500K genotyping and Illumina custom genotyping arrays, highlighted a region upstream of VAMP3 within CAMTA1 to be associated with increased risk of CAD [rs10864294 P = 0.015, odds ratio (OR) = 1.30, 95% confidence interval (CI) = 1.1-1.6, 1471 cases, 2737 controls] and aggressive PD (AgP; P = 0.008, OR = 1.31, 95% CI = 1.1-1.6, 864 cases, 3664 controls). 23813974 2013
dbSNP: rs2301462
rs2301462
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE In silico replication in a meta-analysis of 14 genome-wide association studies of CAD of the CARDIoGRAM Consortium identified rs2301462, located on the same haplotype block, as associated with P = 0.001 upon adjustment for sex and age. 23813974 2013
dbSNP: rs137974312
rs137974312
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE One CAMTA1 variant (T1336I) was not detected in 97 unaffected individuals, another (N1177K) resides in a conserved domain of the CAMTA1 protein and was found hemizygous in six neuroblastomas. 17222547 2007
dbSNP: rs41278952
rs41278952
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE One CAMTA1 variant (T1336I) was not detected in 97 unaffected individuals, another (N1177K) resides in a conserved domain of the CAMTA1 protein and was found hemizygous in six neuroblastomas. 17222547 2007
dbSNP: rs112193369
rs112193369
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0600139
Disease:
Prostate carcinoma 		0.700 GeneticVariation GWASCAT Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. 31095341 2020
dbSNP: rs12128526
rs12128526
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1891215
rs1891215
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs7534398
rs7534398
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0424574
Disease:
Duration of sleep 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. 30846698 2019
dbSNP: rs12137398
rs12137398
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1269683
Disease:
Major Depressive Disorder 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs12137398
rs12137398
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0525045
Disease:
Mood Disorders 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs4908678
rs4908678
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs6691442
rs6691442
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs7512599
rs7512599
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
dbSNP: rs185305928
rs185305928
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C4277682
Disease:
Chemical and Drug Induced Liver Injury 		0.700 GeneticVariation GWASCAT Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. 28043905 2017
dbSNP: rs10864302
rs10864302
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1863416
Disease:
Autosomal dominant compelling helio ophthalmic outburst syndrome 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs11121012
rs11121012
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11121012
rs11121012
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2412208
rs2412208
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 GeneticVariation GWASCAT Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. 27244217 2016
dbSNP: rs2412208
rs2412208
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C3542025
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation GWASCAT Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. 27244217 2016
dbSNP: rs2412208
rs2412208
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 GeneticVariation GWASCAT Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. 27244217 2016
dbSNP: rs2412208
rs2412208
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.700 GeneticVariation GWASCAT Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. 27244217 2016
dbSNP: rs1135401818
rs1135401818
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C3553661
Disease:
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015
dbSNP: rs1553238271
rs1553238271
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015