TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Down Syndrome ×
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: rs1801198
rs1801198 		0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 0.500 2 2008 2012
dbSNP: rs1465444723
rs1465444723 		0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2008 2008