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 | 15 | 67181385 | missense variant | G/A | snv |
|
0.700 | 1.000 | 8 | 1999 | 2019 | ||||||||||
|
1.000 | 15 | 67181364 | missense variant | C/T | snv |
|
0.800 | 1.000 | 6 | 2011 | 2017 | ||||||||||
|
1.000 | 15 | 67181418 | missense variant | G/A | snv |
|
0.800 | 1.000 | 6 | 2011 | 2017 | ||||||||||
|
1.000 | 15 | 67165023 | missense variant | C/T | snv |
|
0.700 | 1.000 | 6 | 2011 | 2017 | ||||||||||
|
0.925 | 15 | 67181441 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2011 | ||||||||||
|
0.925 | 15 | 67181441 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2015 | ||||||||||
|
1.000 | 15 | 67164965 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 15 | 67184843 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||||
|
15 | 67195211 | downstream gene variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 67171053 | intron variant | T/C | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 67174805 | intron variant | G/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 67174959 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 67175169 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 67175169 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 15 | 67181318 | frameshift variant | -/GACA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 15 | 67181430 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 15 | 67181433 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 67171675 | intron variant | A/G;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 67149659 | intron variant | T/C | snv | 0.36 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
15 | 67109128 | intron variant | T/C | snv | 0.23 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
15 | 67174264 | intron variant | A/G | snv | 0.34 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
15 | 67176187 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 67064151 | non coding transcript exon variant | T/C;G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 67165814 | intron variant | G/A;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 67126053 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |