TTC7A, tetratricopeptide repeat domain 7A, 57217

N. diseases: 59; N. variants: 26
Disease: Congenital atresia of colon ×
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: rs886042805
rs886042805 		0.827 0.080 2 46950464 stop gained G/T snv
CUI: C0266190
Disease: Congenital atresia of colon
Congenital atresia of colon 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886042806
rs886042806 		0.827 0.080 2 47006038 frameshift variant -/C delins
CUI: C0266190
Disease: Congenital atresia of colon
Congenital atresia of colon 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2016 2016