TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778381859
rs778381859
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0342701
Disease:
Transcobalamin II deficiency
G 0.700 GeneticVariation CLINVAR Update on transcobalamin deficiency: clinical presentation, treatment and outcome. 24305960 2014
dbSNP: rs778381859
rs778381859
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0342701
Disease:
Transcobalamin II deficiency
G 0.700 GeneticVariation CLINVAR Should transcobalamin deficiency be treated aggressively? 20352340 2010
dbSNP: rs1157135425
rs1157135425
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0342701
Disease:
Transcobalamin II deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555895066
rs1555895066
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0342701
Disease:
Transcobalamin II deficiency
CT 0.700 CausalMutation CLINVAR
dbSNP: rs372866837
rs372866837
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0342701
Disease:
Transcobalamin II deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs606231119
rs606231119
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0342701
Disease:
Transcobalamin II deficiency
G 0.700 CausalMutation CLINVAR
dbSNP: rs778381859
rs778381859
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0342701
Disease:
Transcobalamin II deficiency
G 0.700 CausalMutation CLINVAR