SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: De La Chapelle Dysplasia ×
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: rs121908078
rs121908078 		0.925 0.120 5 149981128 missense variant C/A snv 4.8E-05 7.0E-06
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs104893915
rs104893915 		0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997
dbSNP: rs104893920
rs104893920 		0.882 0.120 5 149980866 missense variant A/G snv
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997