SERPINA6, serpin family A member 6, 866

N. diseases: 68; N. variants: 4
Disease: Corticosteroid-Binding Globulin Deficiency ×
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: rs28929488
rs28929488 		1.000 0.080 14 94304471 missense variant C/T snv 6.2E-04 5.1E-04
CUI: C1852529
Disease: Corticosteroid-Binding Globulin Deficiency
Corticosteroid-Binding Globulin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 1 2003 2003
dbSNP: rs113418909
rs113418909 		1.000 0.080 14 94314305 missense variant A/T snv 2.2E-03 2.2E-03
CUI: C1852529
Disease: Corticosteroid-Binding Globulin Deficiency
Corticosteroid-Binding Globulin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 1992 2007