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 | 0.120 | 19 | 49016209 | synonymous variant | A/G | snv | 0.61 | 0.65 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.851 | 0.200 | 19 | 49016648 | missense variant | A/G | snv | 6.5E-02 | 7.6E-02 |
|
Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||
|
0.851 | 0.200 | 19 | 49016648 | missense variant | A/G | snv | 6.5E-02 | 7.6E-02 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.851 | 0.200 | 19 | 49016648 | missense variant | A/G | snv | 6.5E-02 | 7.6E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.200 | 19 | 49016648 | missense variant | A/G | snv | 6.5E-02 | 7.6E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.851 | 0.200 | 19 | 49016626 | missense variant | A/G | snv | 4.9E-02 | 7.5E-02 |
|
Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||
|
0.851 | 0.200 | 19 | 49016626 | missense variant | A/G | snv | 4.9E-02 | 7.5E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.200 | 19 | 49016626 | missense variant | A/G | snv | 4.9E-02 | 7.5E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.851 | 0.200 | 19 | 49016626 | missense variant | A/G | snv | 4.9E-02 | 7.5E-02 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1.000 | 0.040 | 19 | 49016647 | stop gained | C/T | snv |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
19 | 49017570 | 3 prime UTR variant | G/T | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 49017571 | 3 prime UTR variant | A/T | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 19 | 49016563 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 19 | 49016691 | inframe deletion | AACAGCAGCAGC/- | delins |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 49016546 | splice donor variant | C/A;G | snv |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 49016634 | inframe deletion | ATGGGGTGG/- | delins |
|
Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 49016273 | missense variant | T/C | snv |
|
Endocrine System Diseases | 0.800 | 0 |