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 | 0.160 | 7 | 27198251 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.800 | 1.000 | 4 | 2000 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 27201854 | non coding transcript exon variant | T/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 27201854 | non coding transcript exon variant | T/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 7 | 27198258 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 7 | 27199671 | frameshift variant | -/AGGACGACGCGGCGGCGGCGGCGGCGGCTGCAGCGGCAGCCGCGGCAGCAGC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 7 | 27199671 | stop gained | G/A;T | snv | 7.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 7 | 27199072 | intron variant | C/G | snv | 0.93 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 |