TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Transcobalamin II deficiency ×
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: rs778381859
rs778381859 		1.000 22 30614416 frameshift variant TC/- delins 1.2E-04 1.5E-04
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.700 1.000 2 2010 2014
dbSNP: rs1157135425
rs1157135425 		1.000 22 30615771 frameshift variant TCTG/- delins 2.1E-05
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.700 0
dbSNP: rs1555895066
rs1555895066 		1.000 22 30615611 frameshift variant -/T delins
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.700 0
dbSNP: rs372866837
rs372866837 		1.000 22 30615125 intron variant A/G;T snv
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.700 0
dbSNP: rs606231119
rs606231119 		1.000 22 30613044 splice donor variant T/G snv
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		0.700 0