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 | 0.080 | 1 | 193125142 | stop gained | C/G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 1 | 193122253 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 1 | 193234361 | intron variant | -/ATAATT | delins | 0.16 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.080 | 1 | 193125171 | missense variant | T/C | snv |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 1 | 193125168 | missense variant | T/C | snv |
|
Endocrine System Diseases | 0.700 | 1.000 | 5 | 2002 | 2008 | ||||||||
|
0.851 | 0.080 | 1 | 193125171 | missense variant | T/C | snv |
|
Endocrine System Diseases | 0.800 | 1.000 | 5 | 2002 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 193125110 | splice acceptor variant | A/G;T | snv |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 1 | 193122332 | splice donor variant | G/A | snv |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 1 | 193142016 | frameshift variant | -/AG | ins | 4.0E-06 |
|
Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 1 | 193122203 | start lost | G/A;T | snv |
|
Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 1 | 193125206 | stop gained | C/T | snv | 7.0E-06 |
|
Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.160 | 1 | 193122225 | stop gained | C/A;T | snv | 4.0E-06 |
|
Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 1 | 193130173 | splice acceptor variant | G/A | snv |
|
Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 1 | 193142016 | frameshift variant | -/AG | ins | 4.0E-06 |
|
Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 1 | 193212458 | missense variant | G/A;T | snv | 4.0E-06 | 2.1E-05 |
|
Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 1 | 193125171 | missense variant | T/C | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.080 | 1 | 193125171 | missense variant | T/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.160 | 1 | 193122203 | start lost | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 1 | 193212458 | missense variant | G/A;T | snv | 4.0E-06 | 2.1E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1.000 | 0.080 | 1 | 193122213 | frameshift variant | CTTA/- | del |
|
Neoplasms; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 193122208 | frameshift variant | ACG/CT | delins |
|
Neoplasms; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 193122332 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 193142016 | frameshift variant | AGAG/-;AGAGAG | delins |
|
Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2002 | 2014 | ||||||||
|
0.851 | 0.080 | 1 | 193125171 | missense variant | T/C | snv |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 |