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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 2 | 233764663 | intron variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 7 | 2011 | 2019 | ||||||||
|
0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 7 | 2009 | 2015 | ||||||||
|
0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 6 | 2009 | 2015 | |||||||||
|
0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 |
|
0.800 | 1.000 | 6 | 2009 | 2015 | ||||||||
|
2 | 233749337 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 5 | 2009 | 2015 | ||||||||||
|
0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 5 | 2009 | 2013 | |||||||||
|
2 | 233749337 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||||
|
2 | 233730664 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||||
|
2 | 233730664 | intron variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 4 | 2009 | 2013 | ||||||||||
|
2 | 233741958 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||||
|
2 | 233741958 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||||
|
0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||
|
2 | 233736540 | intron variant | G/T | snv | 0.37 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||||
|
0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins |
|
Pathological Conditions, Signs and Symptoms | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | ||||||||
|
0.925 | 0.040 | 2 | 233765830 | intron variant | A/G | snv | 0.32 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
2 | 233749231 | intron variant | T/A | snv | 0.37 |
|
0.800 | 1.000 | 3 | 2009 | 2015 | ||||||||||
|
2 | 233745803 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||||
|
0.851 | 0.080 | 2 | 233764663 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2011 | 2013 | ||||||||
|
1.000 | 2 | 233746667 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2015 | ||||||||||
|
2 | 233736540 | intron variant | G/T | snv | 0.37 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
2 | 233749470 | intron variant | C/T | snv | 0.37 |
|
0.800 | 1.000 | 3 | 2009 | 2015 | ||||||||||
|
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 | ||||||||
|
2 | 233749231 | intron variant | T/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||||
|
2 | 233757136 | intron variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2012 | 2015 |