KIAA0586, KIAA0586, 9786

N. diseases: 157; N. variants: 25
Disease: Thoracic hypoplasia ×
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: rs1566883760
rs1566883760 		0.925 0.120 14 58487978 frameshift variant T/- delins
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0