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 | 0.040 | 16 | 55485677 | stop gained | C/A;G | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 16 | 55493177 | frameshift variant | C/- | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Digestive System Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 55485627 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 16 | 55496946 | missense variant | C/T | snv | 4.8E-05 | 3.5E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | < 0.001 | 2 | 2008 | 2013 | |||||||
|
0.925 | 0.080 | 16 | 55499358 | intron variant | A/G | snv | 0.26 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 16 | 55499358 | intron variant | A/G | snv | 0.26 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 16 | 55484698 | intron variant | C/A;G;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 16 | 55484698 | intron variant | C/A;G;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
16 | 55505279 | intron variant | C/G | snv | 0.50 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 16 | 55489798 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 16 | 55491915 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 0.333 | 3 | 2017 | 2018 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Neoplasms; Male Urogenital Diseases | 0.030 | 0.333 | 3 | 2017 | 2018 | |||||||
|
0.925 | 0.080 | 16 | 55478410 | intron variant | T/G | snv | 0.19 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2009 | 2009 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2017 | 2019 | |||||||
|
1.000 | 0.040 | 16 | 55483057 | missense variant | G/A | snv | 4.0E-06 |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2001 | 2006 | |||||||
|
0.925 | 0.200 | 16 | 55491830 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2001 | 2006 | ||||||||
|
1.000 | 0.040 | 16 | 55478141 | intron variant | G/A;C | snv | 0.11 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2009 | 2009 | |||||||
|
0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 |