Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 0.980 | 406 | 2005 | 2020 | |||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.100 | 0.938 | 16 | 2015 | 2020 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181302 | missense variant | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.740 | 1.000 | 11 | 2004 | 2018 | |||||
|
9 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 0.740 | 1.000 | 10 | 2004 | 2018 | |||||
|
6 | 0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 7 | 55181395 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 7 | 55181327 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||
|
2 | 1.000 | 0.080 | 7 | 55181313 | missense variant | C/G;T | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 55181320 | protein altering variant | -/ACC | delins | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181287 | coding sequence variant | -/TCCAGGAAGCCT | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181325 | inframe insertion | -/CACGTG | delins | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181323 | protein altering variant | -/CCCACG | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins | 0.700 | 0 |