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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 233749337 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 5 | 2009 | 2015 | ||||||||||
|
2 | 233690345 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 5 | 2009 | 2013 | |||||||||||
|
2 | 233690345 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 5 | 2009 | 2013 | |||||||||||
|
2 | 233690443 | intron variant | C/G | snv | 0.39 |
|
0.700 | 1.000 | 5 | 2009 | 2013 | ||||||||||
|
2 | 233690443 | intron variant | C/G | snv | 0.39 |
|
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 | ||||||||||
|
2 | 233736540 | intron variant | G/T | snv | 0.37 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||||
|
2 | 233749231 | intron variant | T/A | snv | 0.37 |
|
0.800 | 1.000 | 3 | 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 | |||||||||||
|
2 | 233745803 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||||
|
2 | 233747994 | non coding transcript exon variant | T/C | snv | 0.37 |
|
0.800 | 1.000 | 3 | 2009 | 2015 | ||||||||||
|
1.000 | 2 | 233716976 | intron variant | C/G;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 | ||||||||||
|
2 | 233756119 | non coding transcript exon variant | T/C | snv | 0.30 |
|
0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||||
|
2 | 233726595 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
2 | 233726595 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
2 | 233716651 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
2 | 233716651 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
2 | 233694793 | intron variant | A/C | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
2 | 233694793 | intron variant | A/C | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2009 | 2013 |