PDXDC1, pyridoxal dependent decarboxylase domain containing 1, 23042
N. diseases: 24; N. variants: 26
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 14989008 | non coding transcript exon variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
16 | 15036113 | synonymous variant | A/G | snv | 0.35 | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
16 | 15036113 | synonymous variant | A/G | snv | 0.35 | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
16 | 15036113 | synonymous variant | A/G | snv | 0.35 | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
16 | 15054789 | intron variant | C/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15038117 | missense variant | G/A;T | snv | 4.0E-06; 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15078261 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15056648 | intron variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15040032 | synonymous variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15041997 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15038251 | 3 prime UTR variant | A/C;G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15036083 | missense variant | C/A;T | snv | 4.0E-06; 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15039051 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15045737 | non coding transcript exon variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15034559 | splice region variant | A/G | snv | 0.25 | 0.24 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 15080714 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15046354 | intron variant | C/T | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15031584 | intron variant | T/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15037785 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 15035602 | intron variant | A/G | snv | 0.40 | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 15035602 | intron variant | A/G | snv | 0.40 | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 15036737 | 3 prime UTR variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15036113 | synonymous variant | A/G | snv | 0.35 | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 15027057 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 15025034 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |