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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 6 | 2009 | 2015 | |||||||||
|
2 | 233755003 | splice region variant | C/G;T | snv | 0.48 |
|
0.800 | 1.000 | 3 | 2009 | 2015 | ||||||||||
|
2 | 233755414 | non coding transcript exon variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2015 | |||||||||||
|
1.000 | 2 | 233746667 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2015 | ||||||||||
|
1.000 | 0.080 | 2 | 233772898 | 3 prime UTR variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
2 | 233756852 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 233771328 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 233763526 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
2 | 233732958 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 2 | 233729143 | missense variant | A/G | snv | 3.5E-03 | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
2 | 233748866 | intron variant | G/T | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233731010 | intron variant | G/A | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233766390 | intron variant | C/T | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233756033 | non coding transcript exon variant | G/A | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233738018 | intron variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233759379 | intron variant | A/G | snv | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233759163 | intron variant | C/T | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233745676 | intron variant | C/T | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233729360 | synonymous variant | A/G | snv | 2.3E-02 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
2 | 233752490 | non coding transcript exon variant | T/C | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233766921 | intron variant | C/T | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233754399 | non coding transcript exon variant | C/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233742577 | intron variant | G/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |