UGT1A3, UDP glucuronosyltransferase family 1 member A3, 54659
N. diseases: 66; N. variants: 148
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.860 | 1.000 | 11 | 1995 | 2018 | |||||||
|
0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 15 | 1995 | 2018 | ||||||
|
0.925 | 0.080 | 2 | 233760973 | missense variant | C/A;T | snv | 1.5E-03; 4.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.730 | 1.000 | 3 | 2001 | 2007 | |||||||
|
0.925 | 0.080 | 2 | 233760534 | missense variant | T/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 2 | 233768234 | missense variant | C/G;T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 1995 | 2007 | |||||||
|
0.925 | 0.080 | 2 | 233767050 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 1995 | 2007 | ||||||||
|
0.925 | 0.080 | 2 | 233767873 | stop gained | C/G;T | snv | 4.0E-06; 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.882 | 0.080 | 2 | 233761127 | stop gained | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 233764816 | intron variant | T/C | snv | 0.49 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 2 | 233767903 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |