ADD3, adducin 3, 120

N. diseases: 54; N. variants: 6
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: rs10884920
rs10884920 		1.000 0.040 10 110015049 intron variant A/G;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs12572168
rs12572168 		10 110005028 intron variant A/C snv 0.14
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2501574
rs2501574 		0.925 0.040 10 110090745 intron variant A/G;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2501574
rs2501574 		0.925 0.040 10 110090745 intron variant A/G;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs564185858
rs564185858 		0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy 		0.700 0
dbSNP: rs564185858
rs564185858 		0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs564185858
rs564185858 		0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.700 0
dbSNP: rs564185858
rs564185858 		0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C4310767
Disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 		0.700 0
dbSNP: rs10509906
rs10509906 		0.925 0.080 10 109997916 intron variant G/A;C snv
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 0.500 2 2014 2018
dbSNP: rs10509906
rs10509906 		0.925 0.080 10 109997916 intron variant G/A;C snv
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 0.500 2 2014 2018
dbSNP: rs2501577
rs2501577 		0.925 0.080 10 110086929 intron variant A/G snv 0.37
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 2018 2018
dbSNP: rs2501577
rs2501577 		0.925 0.080 10 110086929 intron variant A/G snv 0.37
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 2018 2018