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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 30 | 2002 | 2019 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 19 | 2002 | 2019 | |||||
|
1 | 1.000 | 0.080 | 18 | 10899030 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 14 | 95476110 | upstream gene variant | A/C | snv | 0.52 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 2 | 19429543 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 18930224 | intron variant | G/A | snv | 0.83 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 13 | 95123178 | intron variant | C/T | snv | 4.7E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 6 | 117450114 | intron variant | A/T | snv | 2.4E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 7 | 28974579 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.080 | 3 | 195137645 | intron variant | G/A | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 1 | 67639770 | intergenic variant | A/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 16 | 16864058 | intergenic variant | G/A | snv | 0.70 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.790 | 1.000 | 26 | 2002 | 2019 | ||||
|
9 | 0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv | 0.750 | 1.000 | 21 | 2004 | 2019 | |||||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.750 | 1.000 | 11 | 2004 | 2020 | |||||
|
6 | 0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv | 0.740 | 1.000 | 21 | 1990 | 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 | |||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.730 | 0.750 | 4 | 2013 | 2019 | ||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.720 | 1.000 | 5 | 2002 | 2018 | ||||
|
6 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 0.720 | 1.000 | 4 | 1995 | 2016 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 2002 | 2019 |