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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 15038117 | missense variant | G/A;T | snv | 4.0E-06; 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15037797 | 3 prime UTR variant | -/A;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
16 | 15040032 | synonymous variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15038251 | 3 prime UTR variant | A/C;G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15037785 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 15056648 | intron variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15056648 | intron variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 15054789 | intron variant | C/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 16 | 15052204 | intron variant | T/C | snv | 0.29 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 16 | 15052204 | intron variant | T/C | snv | 0.29 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
16 | 15044556 | non coding transcript exon variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 15041997 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15046354 | intron variant | C/T | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15039051 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 15039051 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 15045737 | non coding transcript exon variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |