Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886037834
rs886037834 		0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06
CUI: C4310668
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
HETEROTAXY, VISCERAL, 8, AUTOSOMAL 		0.800 1.000 1 2016 2016
dbSNP: rs886037834
rs886037834 		0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 1 2016 2016
dbSNP: rs17710886
rs17710886 		0.925 0.040 7 47838297 intron variant G/A snv 3.1E-03
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs17710886
rs17710886 		0.925 0.040 7 47838297 intron variant G/A snv 3.1E-03
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C3280940
Disease: Unbalanced atrioventricular canal defect
Unbalanced atrioventricular canal defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C0035615
Disease: Right aortic arch (disorder)
Right aortic arch (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C3164429
Disease: Indeterminate atrial arrangement
Indeterminate atrial arrangement 		0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037834
rs886037834 		0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037834
rs886037834 		0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037834
rs886037834 		0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06
CUI: C4023272
Disease: Congenitally corrected transposition of the great arteries with ventricular septal defect
Congenitally corrected transposition of the great arteries with ventricular septal defect 		0.700 1.000 1 2016 2016
dbSNP: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C4310668
Disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
HETEROTAXY, VISCERAL, 8, AUTOSOMAL 		0.700 0
dbSNP: rs2708896
rs2708896 		0.882 0.080 7 47955186 upstream gene variant T/C;G snv
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2708896
rs2708896 		0.882 0.080 7 47955186 upstream gene variant T/C;G snv
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2708896
rs2708896 		0.882 0.080 7 47955186 upstream gene variant T/C;G snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs886037834
rs886037834 		0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016