TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Conotruncal defect ×
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: rs1465444723
rs1465444723 		0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2012 2012