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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.060 | 0.667 | 6 | 2001 | 2017 | |||
|
1 | 1.000 | 0.040 | 6 | 152131959 | intron variant | G/A;C | snv | 0.030 | 0.667 | 3 | 2010 | 2014 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.080 | 0.875 | 8 | 2004 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.080 | 0.875 | 8 | 2004 | 2016 | ||||
|
2 | 0.925 | 0.040 | 12 | 61858476 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.925 | 0.080 | 12 | 72010598 | intron variant | C/A;T | snv | 0.81 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.925 | 0.120 | 16 | 67483042 | missense variant | C/T | snv | 3.2E-02 | 2.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 6 | 151981443 | intron variant | G/A | snv | 0.56 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
4 | 0.851 | 0.160 | 5 | 143407136 | non coding transcript exon variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 5 | 26866262 | intergenic variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 8 | 30169582 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 2 | 25161018 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 1 | 96435899 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 71983532 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.040 | 8 | 20192013 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 12 | 127200688 | intron variant | T/C | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 4 | 54619021 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 141889478 | downstream gene variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 14 | 64227600 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
1 | 1.000 | 0.040 | 3 | 94886263 | intergenic variant | T/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 7426539 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 67486220 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |