SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Atelosteogenesis type 2 ×
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: rs766836061
rs766836061 		0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 1996 1996