SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant ×
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: rs104893921
rs104893921 		0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06
CUI: C1857255
Disease: Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0