PLEKHA1, pleckstrin homology domain containing A1, 59338
N. diseases: 17; N. variants: 40
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 | 10 | 122407996 | intron variant | C/T | snv | 0.46 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 3 | 2014 | 2018 | |||||||
|
0.925 | 0.120 | 10 | 122432914 | 3 prime UTR variant | T/C | snv | 0.56 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 10 | 122429681 | missense variant | A/G | snv | 0.68 | 0.69 |
|
Eye Diseases | 0.730 | 0.750 | 4 | 2013 | 2018 | ||||||
|
1.000 | 0.040 | 10 | 122395865 | intron variant | C/T | snv | 0.48 |
|
Eye Diseases | 0.710 | 1.000 | 2 | 2007 | 2013 | |||||||
|
0.925 | 0.120 | 10 | 122432914 | 3 prime UTR variant | T/C | snv | 0.56 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122433665 | 3 prime UTR variant | T/G | snv | 0.56 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122442149 | 3 prime UTR variant | T/G | snv | 0.11 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 10 | 122407996 | intron variant | C/T | snv | 0.46 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 10 | 122385696 | intron variant | C/T | snv | 0.31 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
0.851 | 0.040 | 10 | 122389836 | intron variant | C/T | snv | 0.32 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122379288 | intron variant | A/G | snv | 0.32 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122390401 | intron variant | T/C | snv | 0.55 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122407488 | intron variant | G/A;C | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 122421062 | non coding transcript exon variant | C/A | snv | 0.47 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122421250 | non coding transcript exon variant | C/T | snv | 0.45 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122379877 | intron variant | C/T | snv | 0.47 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122383113 | intron variant | T/A;C | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 122388123 | intron variant | G/A | snv | 0.47 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 122395110 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 10 | 122439069 | 3 prime UTR variant | A/G | snv | 0.47 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122394653 | intron variant | T/C | snv | 0.11 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122418363 | non coding transcript exon variant | T/C | snv | 0.11 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 122433665 | 3 prime UTR variant | T/G | snv | 0.56 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 10 | 122433665 | 3 prime UTR variant | T/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 122433665 | 3 prime UTR variant | T/G | snv | 0.56 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |