UGT1A6, UDP glucuronosyltransferase family 1 member A6, 54578
N. diseases: 115; N. variants: 229
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
2 | 233749231 | intron variant | T/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233749337 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233691628 | 5 prime UTR variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233755003 | splice region variant | C/G;T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233757136 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233755414 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
2 | 233747994 | non coding transcript exon variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233730664 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233691295 | 3 prime UTR variant | C/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233743701 | non coding transcript exon variant | C/A;G;T | snv | 4.0E-06; 0.22; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233692353 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233697189 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233702266 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
2 | 233740656 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.040 | 2 | 233702448 | intron variant | T/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 233744071 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 2 | 233716976 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233728376 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233728546 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233740214 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 233695584 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
2 | 233764593 | intron variant | G/A;T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |