TCTEX1D2, Tctex1 domain containing 2, 255758

N. diseases: 19; N. variants: 1
Disease: Congenital absence of spleen ×
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: rs886039815
rs886039815 		0.851 0.320 3 196306939 splice region variant T/A snv
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0