SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Global developmental delay ×
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: rs111033212
rs111033212 		0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs80338848
rs80338848 		0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0