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 | 14 | 75815818 | intron variant | G/A;C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 14 | 75783325 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 75720648 | missense variant | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 14 | 75745582 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 14 | 75801843 | intron variant | C/G | snv | 0.13 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 75741966 | intron variant | A/C | snv | 0.11 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 75824616 | intron variant | C/T | snv | 0.90 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 75828181 | intron variant | G/A | snv | 0.14 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 75771660 | intron variant | G/A | snv | 0.11 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 75793338 | intron variant | C/G | snv | 0.66 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 14 | 75764691 | stop gained | G/A;T | snv | 2.4E-04 |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.040 | 14 | 75741694 | intron variant | G/T | snv | 0.76 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 14 | 75639419 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 3 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 14 | 75633653 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 3 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 14 | 75641008 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 3 | 2010 | 2010 | |||||||
|
0.925 | 0.160 | 14 | 75641008 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 14 | 75764648 | frameshift variant | AGAG/-;AG | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 14 | 75690221 | frameshift variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 14 | 75863694 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 14 | 75816471 | intron variant | G/T | snv | 0.86 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
14 | 75663248 | intron variant | A/G | snv | 4.3E-03 | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
14 | 75663248 | intron variant | A/G | snv | 4.3E-03 | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 14 | 75779563 | intron variant | T/C | snv | 3.5E-02 | 2.6E-02 |
|
Nervous System Diseases; Wounds and Injuries | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.080 | 14 | 75641062 | splice donor variant | T/C | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 14 | 75794794 | intron variant | A/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |