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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 15 | 63445726 | intergenic variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 12 | 58865846 | intergenic variant | A/G | snv | 0.12 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 3 | 32447042 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 12 | 42859612 | regulatory region variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 15 | 31537504 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 9 | 18109237 | intron variant | A/T | snv | 3.4E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 19 | 14240762 | intergenic variant | C/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 13 | 75202132 | intergenic variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.040 | 12 | 54581014 | missense variant | C/T | snv | 4.6E-03 | 1.9E-02 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
2 | 0.925 | 0.040 | 17 | 66310015 | intron variant | C/T | snv | 0.59 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 211379678 | 3 prime UTR variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 2 | 211378978 | 3 prime UTR variant | G/C;T | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 26092879 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.040 | 12 | 6775316 | synonymous variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 2 | 211378020 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 2 | 211377916 | 3 prime UTR variant | G/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 3 | 38550915 | synonymous variant | A/G | snv | 0.39 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 5 | 175684809 | intron variant | G/C;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 14 | 24340589 | upstream gene variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 14 | 24336257 | missense variant | G/A;T | snv | 1.2E-05; 7.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 211383109 | 3 prime UTR variant | C/T | snv | 0.96 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 20 | 58890516 | synonymous variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 3 | 69178228 | intron variant | A/G | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 14 | 94378559 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 17 | 66319248 | intron variant | G/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 |