Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 2 | 203870896 | stop gained | C/A;T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 203870888 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.700 | 0 | |||||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 203870684 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 2 | 203868002 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 2 | 203868002 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 2 | 203868002 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.030 | 0.333 | 3 | 2003 | 2008 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.020 | 0.500 | 2 | 2018 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.020 | 0.500 | 2 | 2018 | 2019 | ||||||||
|
0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 |
|
0.020 | 0.500 | 2 | 2017 | 2018 | ||||||||
|
0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 |
|
0.020 | 0.500 | 2 | 2017 | 2018 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.050 | 0.600 | 5 | 2004 | 2015 |