TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
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: rs2283873
rs2283873 		1.000 0.160 22 30617309 intron variant G/A snv 8.8E-02 0.12
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2012 2012
dbSNP: rs117353193
rs117353193 		0.925 0.080 22 30614430 missense variant G/A snv 7.1E-04 3.1E-04
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 1 2018 2018
dbSNP: rs117353193
rs117353193 		0.925 0.080 22 30614430 missense variant G/A snv 7.1E-04 3.1E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 1 2018 2018
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: rs11913239
rs11913239 		1.000 0.160 22 30613852 intron variant C/T snv 0.12
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12485165
rs12485165 		22 30624354 intron variant G/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs16988855
rs16988855 		1.000 0.160 22 30615936 intron variant T/C snv 0.12
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2009857
rs2009857 		1.000 0.160 22 30618390 intron variant C/G;T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2267166
rs2267166 		1.000 0.160 22 30622091 intron variant G/A snv 0.11
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4820885
rs4820885 		22 30616769 intron variant T/C snv 0.63
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5753231
rs5753231 		22 30607082 5 prime UTR variant C/T snv 0.14
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7288385
rs7288385 		1.000 0.160 22 30619586 intron variant C/A snv 0.11
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7288627
rs7288627 		1.000 0.160 22 30619575 intron variant G/A snv 0.11
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7290898
rs7290898 		1.000 0.160 22 30615293 splice region variant A/C;G;T snv 7.9E-02; 2.9E-04; 1.1E-03
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs8141515
rs8141515 		1.000 0.160 22 30622085 intron variant T/C snv 0.11
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
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
dbSNP: rs1801198
rs1801198 		0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 0.500 2 2008 2012
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: rs1801198
rs1801198 		0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2017
dbSNP: rs1801198
rs1801198 		0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2003 2007
dbSNP: rs1801198
rs1801198 		0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.020 1.000 2 2018 2019
dbSNP: rs11557601
rs11557601 		1.000 0.040 22 30622985 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012