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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 149195339 | intron variant | G/T | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 149210187 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2002 | 2002 | |||||||
|
3 | 149210191 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2003 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 149186649 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2002 | 2017 | ||||||
|
1.000 | 0.080 | 3 | 149185283 | splice acceptor variant | TGGGGAATAATCCCATTCCACCTCCACTGCTGCGATATAGTATGTCCTCTCTCCCAGGTAGAAGGTGGAATCCTCAGACTGCCGCCTGCATTGGTTCACAGTATATTTTTGCTTCATGCCGCCTGTGTAATGATCAGTTGTAAGGCATTCAACATTAAAAGTCCCTGGAGTGGTAAATAAGAAAACATGTCACTTCTTTGCTAGTGCCCTCTGGGGCTCTCCACCTTCCTCAGAATTA/- | del |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 149186168 | splice acceptor variant | GAAAAGTTTAGGTGCAGAATATTTATGGGAGTCATTCCCCTTCTAGTCTGATTTTCCAGCTATCTTTAAAAGGACCATAATCTAAAAAGGGATCATCTTGAGGAGCCTATGGAAGTGGAGAAAACCACACCATGTTCTTTTACTCCACATTGTCCTCAGTAACTAGGAAACAGACCTATCTGGTACATACTTCAGCTGATAGTGGCCTAGACTTGCTCTTTCAAAGATAGGAAGGGCACTTCAGAGGCTTGGGGAAGGGATAAGTTTATCACCCAACACATTCTGCTACAGGATTTTAAACCAAAACTACACAAATCCATCCAATAGAGACTTGGCTTTAAGTAAATATACCCTCTGTGTCAGGCCACATGTGGAGCGTAAGACTTGTTTGAGGGAAGAGGTTTGCTGTGTCTCTCCGTTCTCCTCTCCACAGATATGTGTTTCCTGAAAAGTATATTCCATGTACATCGGCCTCATTTCCGGCGCTGAATAAGTACCACACGACCGAATCTCCTTTGCACATAGTGAGACCCGGCTGATTCCCATACATGAATCCATTCATGGCTGTAAAAGTTGGGAAATAACATTTTGGAAGTGGTTTAGATTCTACTACATGACAACCTCACAGACTTTCCAGGACCAACTTTGTTTTTTTAATTTTTAAAAGACCTATTCAGGCTTGCCCACGCTTTATGTGTCAGGAGTATCCTTGCAACTCCTTGTGGTTCCTGGCATTTCAGAGCAGCCGCTGGCTGAAAGGAGCAGAGCTGAATGCATAGTTCTTGTTCTATGCTAGTGTCCCTAGCAACCTGGGAATCCCACTGCTCTTCCTGGCTAAAACAATGATTCTGTTATT/- | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 149213737 | intron variant | G/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 149222074 | upstream gene variant | T/C | snv | 0.18 | 0.16 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 3 | 149220559 | intron variant | T/C | snv | 9.7E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 149177867 | missense variant | A/C;G | snv | 3.3E-02 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.080 | 3 | 149209342 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 3 | 149177896 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 3 | 149186531 | frameshift variant | G/- | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 3 | 149209349 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1.000 | 0.040 | 3 | 149223488 | upstream gene variant | G/A | snv | 0.32 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 149221163 | intron variant | A/G | snv | 0.43 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 149198401 | missense variant | C/A | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 149179587 | stop gained | C/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 3 | 149167180 | frameshift variant | GAGA/- | delins | 2.1E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 149178609 | missense variant | C/G | snv | 1.5E-03 | 1.6E-03 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 3 | 149198573 | splice acceptor variant | -/AC | delins |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 149206167 | splice donor variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 |