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 | 5 | 132867015 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 0 | ||||||||||||
|
0.882 | 0.080 | 5 | 132862308 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 2006 | 2018 | ||||||||
|
0.882 | 0.080 | 5 | 132864365 | missense variant | C/A | snv | 1.8E-03 | 5.3E-04 |
|
0.700 | 1.000 | 7 | 2006 | 2018 | |||||||
|
0.925 | 0.080 | 5 | 132862518 | missense variant | G/A | snv | 3.4E-04 | 1.7E-04 |
|
0.700 | 1.000 | 7 | 2006 | 2018 | |||||||
|
1.000 | 5 | 132861671 | missense variant | C/G | snv | 2.6E-04 | 9.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 5 | 132864227 | missense variant | G/A;T | snv | 2.8E-03; 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 132862507 | synonymous variant | G/A | snv | 0.52 | 0.50 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||||
|
0.925 | 0.080 | 5 | 132862507 | synonymous variant | G/A | snv | 0.52 | 0.50 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||||
|
0.882 | 0.080 | 5 | 132862408 | synonymous variant | C/T | snv | 0.14 | 0.17 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 5 | 132862408 | synonymous variant | C/T | snv | 0.14 | 0.17 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 5 | 132862408 | synonymous variant | C/T | snv | 0.14 | 0.17 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.080 | 5 | 132862308 | missense variant | C/T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 5 | 132862308 | missense variant | C/T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 5 | 132864365 | missense variant | C/A | snv | 1.8E-03 | 5.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 5 | 132864365 | missense variant | C/A | snv | 1.8E-03 | 5.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 5 | 132862595 | intron variant | C/G | snv | 0.83 | 0.89 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 5 | 132862595 | intron variant | C/G | snv | 0.83 | 0.89 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 5 | 132864335 | missense variant | T/G | snv | 2.0E-04 | 1.4E-05 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.080 | 5 | 132864335 | missense variant | T/G | snv | 2.0E-04 | 1.4E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.080 | 5 | 132862518 | missense variant | G/A | snv | 3.4E-04 | 1.7E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.080 | 5 | 132862366 | synonymous variant | T/C;G | snv | 8.0E-06; 1.6E-05 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 5 | 132862366 | synonymous variant | T/C;G | snv | 8.0E-06; 1.6E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 |