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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 54138254 | missense variant | A/G | snv | 2.7E-03 | 9.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 54138254 | missense variant | A/G | snv | 2.7E-03 | 9.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 54130706 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 54130744 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 54059899 | intron variant | T/C | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.080 | 6 | 53956196 | intron variant | G/A;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 6 | 53956196 | intron variant | G/A;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 54047537 | non coding transcript exon variant | A/G | snv | 4.0E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 54039549 | intron variant | T/C | snv | 0.51 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 54031357 | intron variant | A/C;G | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 54029992 | intron variant | C/T | snv | 0.38 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 54034290 | intron variant | A/G | snv | 1.1E-02 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 6 | 54037373 | intron variant | G/A | snv | 0.20 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 6 | 54167063 | intron variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 6 | 54122584 | intron variant | T/A | snv | 0.39 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 6 | 54121506 | missense variant | A/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||||
|
1.000 | 0.120 | 6 | 54121506 | missense variant | A/C | snv | 4.0E-06 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||||
|
1.000 | 0.040 | 6 | 54059372 | intron variant | A/T | snv | 6.5E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 54055973 | intron variant | A/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 54056608 | intron variant | T/C | snv | 0.11 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 54035922 | intron variant | T/C | snv | 3.0E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 54038354 | intron variant | G/A | snv | 0.51 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 6 | 54038354 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |