ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4688181
rs4688181
Entrez Id: 6314;100507062
Gene Symbol: ATXN7;PSMD6-AS2
ATXN7;PSMD6-AS2
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: rs112674299
rs112674299
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3733125
rs3733125
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3733125
rs3733125
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3774726
rs3774726
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs704364
rs704364
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 31268507 2019
dbSNP: rs2292662
rs2292662
Entrez Id: 6314;100861563
Gene Symbol: ATXN7;SCAANT1
ATXN7;SCAANT1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
dbSNP: rs3774702
rs3774702
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0428883
Disease:
Diastolic blood pressure 		G 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs704373
rs704373
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
dbSNP: rs1053338
rs1053338
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0678222
Disease:
Breast Carcinoma 		G 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs3821902
rs3821902
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0678222
Disease:
Breast Carcinoma 		G 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs1053338
rs1053338
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0678222
Disease:
Breast Carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
dbSNP: rs6798742
rs6798742
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0752125
Disease:
Spinocerebellar Ataxia Type 7 		0.010 GeneticVariation BEFREE A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population. 28597910 2017
dbSNP: rs3774729
rs3774729
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE In all, rs3774729 was significantly associated with overall survival (OS) of HBV-related HCC (P = 0.013, HR = 0.66, 95% CI: 0.48-0.94). 27855399 2016
dbSNP: rs1390860312
rs1390860312
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
CUI: C0752125
Disease:
Spinocerebellar Ataxia Type 7 		0.010 GeneticVariation BEFREE When we compared SCA7-D266N mice with SCA7 mice lacking the D266N mutation, we found that SCA7-D266N mice exhibited improved motor performance, reduced neurodegeneration and substantial lifespan extension. 25859008 2015