TBX18, T-box transcription factor 18, 9096

N. diseases: 31; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761391
rs761391
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9344420
rs9344420
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9362083
rs9362083
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 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: rs9362097
rs9362097
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C0205682
Disease:
Waist-Hip Ratio 		G 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs760905589
rs760905589
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C0521619
Disease:
Obstruction of pelviureteric junction 		0.700 GeneticVariation UNIPROT Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 26235987 2015
dbSNP: rs760905589
rs760905589
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C1840451
Disease:
MULTICYSTIC RENAL DYSPLASIA, BILATERAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797045022
rs797045022
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C0521619
Disease:
Obstruction of pelviureteric junction 		0.700 GeneticVariation UNIPROT
dbSNP: rs797045022
rs797045022
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C1840451
Disease:
MULTICYSTIC RENAL DYSPLASIA, BILATERAL 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869320679
rs869320679
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C1840451
Disease:
MULTICYSTIC RENAL DYSPLASIA, BILATERAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs77693245
rs77693245
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
CUI: C0018818
Disease:
Ventricular Septal Defects 		0.010 GeneticVariation BEFREE Three novel heterozygous DSVs (g.85474435del, g.85474418C>T, and g.85473965C>G) and one single nucleotide polymorphism (g.85474871C>T, rs77693245) were identified in VSD patients, but none in the controls. 23749171 2013