TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Congenital omphalocele ×
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: rs1316694869
rs1316694869 		0.925 0.160 22 30615698 missense variant A/G snv 4.0E-06
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs1801198
rs1801198 		0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2005 2005
dbSNP: rs781389750
rs781389750 		1.000 0.080 22 30610913 missense variant A/G snv 4.0E-06
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012