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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 2 | 160021853 | intron variant | T/G | snv | 0.39 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 160010548 | intron variant | G/A | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 160028931 | missense variant | T/C | snv | 0.39 | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 160027425 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 2 | 159937497 | 3 prime UTR variant | A/G | snv | 0.40 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 159937497 | 3 prime UTR variant | A/G | snv | 0.40 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 160034284 | intron variant | A/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 159971503 | intron variant | C/- | del | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 2 | 160028907 | missense variant | G/C | snv | 0.39 | 0.35 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.050 | 1.000 | 5 | 2010 | 2020 | ||||||
|
0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2013 | 2020 | |||||||
|
1.000 | 0.120 | 2 | 160058595 | intron variant | C/T | snv | 0.31 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 2 | 159976677 | splice region variant | A/G;T | snv | 0.82 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 2 | 160057088 | intron variant | A/G | snv | 0.64 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 2 | 160028907 | missense variant | G/C | snv | 0.39 | 0.35 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.120 | 2 | 160062509 | 5 prime UTR variant | C/T | snv | 0.26 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 160029361 | intron variant | C/A;T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 160030364 | intron variant | G/A | snv | 0.35 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 2 | 160030364 | intron variant | G/A | snv | 0.35 |
|
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 159951564 | missense variant | C/T | snv | 0.40 | 0.37 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 |
|
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |