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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 73408735 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 1994 | 2005 | ||||||||||
|
4 | 73410405 | missense variant | G/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
4 | 73410405 | missense variant | G/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
4 | 73406645 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 73404401 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||||
|
4 | 73411994 | splice acceptor variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||||
|
4 | 73404407 | splice donor variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||||
|
4 | 73413444 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||||
|
4 | 73419634 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 4 | 73412007 | missense variant | G/A;C | snv | 7.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases | 0.820 | 1.000 | 6 | 1994 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 73412045 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 4 | 73412045 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 4 | 73412045 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 4 | 73416326 | missense variant | A/G | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 4 | 73416326 | missense variant | A/G | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 4 | 73416353 | missense variant | C/A;T | snv | 8.0E-06; 9.6E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.080 | 4 | 73416353 | missense variant | C/A;T | snv | 8.0E-06; 9.6E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.080 | 4 | 73408738 | synonymous variant | T/C | snv | 1.6E-05 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |