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 | 63996994 | intron variant | C/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 63996406 | missense variant | G/A;T | snv | 0.34; 8.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 3 | 63881679 | intron variant | A/G;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 63982229 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 3 | 64003780 | upstream gene variant | A/G | snv | 3.1E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||||
|
3 | 63995959 | synonymous variant | C/T | snv | 9.7E-02 | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
3 | 63995959 | synonymous variant | C/T | snv | 9.7E-02 | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 3 | 63982224 | missense variant | A/G | snv | 0.14; 1.2E-05 | 0.10 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
1.000 | 0.080 | 3 | 63956021 | intron variant | T/G | snv | 0.10 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 63871194 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 3 | 63911539 | non coding transcript exon variant | C/T | snv | 0.24 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 63988801 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 3 | 63918083 | intron variant | A/G | snv | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 63889058 | intron variant | A/G | snv | 0.60 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 |