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: rs2283873
rs2283873
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		A 0.800 GeneticVariation GWASCAT A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs2283873
rs2283873
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		A 0.800 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs117353193
rs117353193
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C2931384
Disease:
Moyamoya disease 1 		A 0.710 GeneticVariation GWASCAT Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases. 29273593 2018
dbSNP: rs117353193
rs117353193
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0026654
Disease:
Moyamoya Disease 		A 0.710 GeneticVariation GWASCAT Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases. 29273593 2018
dbSNP: rs117353193
rs117353193
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C2931384
Disease:
Moyamoya disease 1 		0.710 GeneticVariation BEFREE Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases. 29273593 2018
dbSNP: rs117353193
rs117353193
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0026654
Disease:
Moyamoya Disease 		0.710 GeneticVariation BEFREE Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases. 29273593 2018
dbSNP: rs12485165
rs12485165
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4820885
rs4820885
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs5753231
rs5753231
Entrez Id: 6948;23481
Gene Symbol: TCN2;PES1
TCN2;PES1
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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: rs11913239
rs11913239
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs16988855
rs16988855
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs2009857
rs2009857
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs2267166
rs2267166
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs7288385
rs7288385
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs7288627
rs7288627
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs7290898
rs7290898
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
dbSNP: rs8141515
rs8141515
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0027708
Disease:
Nephroblastoma 		0.700 GeneticVariation GWASDB A genome-wide association study identifies susceptibility loci for Wilms tumor. 22544364 2012
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
dbSNP: rs1801198
rs1801198
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C1510586
Disease:
Autism Spectrum Disorders 		0.020 GeneticVariation BEFREE ASD probands showed a higher frequency of rs2298444 'A' allele (P = 0.01) and genotypes with 'A' allele (P = 0.03) when compared with the controls. rs1801198 'C' allele and 'CG' genotype also showed higher occurrence in the probands (P = 0.009 and 0.005, respectively). 30676283 2019