rs1057518422, TAB2

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Urinary Stress Incontinence
CUI: C0042025
Disease: Urinary Stress Incontinence
0.700 GeneticVariation CLINVAR
Rectal Prolapse
CUI: C0034888
Disease: Rectal Prolapse
0.700 GeneticVariation CLINVAR
Bicuspid aortic valve
CUI: C0149630
Disease: Bicuspid aortic valve
0.700 GeneticVariation CLINVAR
Ostium secundum atrial septal defect
CUI: C0344724
Disease: Ostium secundum atrial septal defect
0.700 GeneticVariation CLINVAR
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
0.010 GeneticVariation BEFREE Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family. 29700987 2018
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.010 GeneticVariation BEFREE Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family. 29700987 2018