TCN1, transcobalamin 1, 6947

N. diseases: 52; N. variants: 4
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: rs526934
rs526934 		0.925 0.080 11 59866020 intron variant G/A snv 0.77
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		0.800 1.000 1 2009 2009
dbSNP: rs34324219
rs34324219 		11 59855905 missense variant C/A snv 8.6E-02 9.0E-02
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		0.700 1.000 2 2014 2017
dbSNP: rs34324219
rs34324219 		11 59855905 missense variant C/A snv 8.6E-02 9.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34528912
rs34528912 		11 59864062 missense variant C/T snv 3.4E-02 3.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1209702636
rs1209702636 		1.000 0.080 11 59866445 frameshift variant A/- del 2.0E-05 1.4E-05
CUI: C0342700
Disease: Transcobalamin I Deficiency
Transcobalamin I Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs526934
rs526934 		0.925 0.080 11 59866020 intron variant G/A snv 0.77
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs526934
rs526934 		0.925 0.080 11 59866020 intron variant G/A snv 0.77
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016