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: rs121918342
rs121918342 		1.000 0.120 7 138106621 missense variant C/T snv 2.8E-05 1.0E-04
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 4 2003 2010
dbSNP: rs121918343
rs121918343 		1.000 0.120 7 138091822 missense variant C/T snv 4.0E-06
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 4 2003 2010
dbSNP: rs267606649
rs267606649 		1.000 0.120 7 138097885 missense variant C/G snv 1.6E-05 3.6E-05
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 4 2003 2010
dbSNP: rs267606650
rs267606650 		1.000 0.120 7 138107506 missense variant C/T snv 1.2E-05 3.5E-05
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 4 2003 2010
dbSNP: rs1228918719
rs1228918719 		1.000 0.120 7 138106696 missense variant G/A snv 7.0E-06
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1411452933
rs1411452933 		1.000 0.160 7 138106690 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018