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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 12 | 56752285 | missense variant | T/G | snv | 0.12 | 0.14 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||
|
1 | 16 | 11923062 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||
|
2 | 19 | 55809297 | missense variant | G/A | snv | 0.32 | 0.26 | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||
|
2 | 5 | 176951573 | synonymous variant | G/T | snv | 0.51 | 0.58 | 0.800 | 1.000 | 3 | 2009 | 2015 | |||||
|
1 | 11 | 32520238 | intergenic variant | G/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
1 | 14 | 20470092 | intron variant | A/C | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 6 | 10897255 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 19 | 55319820 | non coding transcript exon variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||
|
1 | 19 | 950694 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
1 | 1 | 38914713 | intron variant | T/C | snv | 0.55 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
2 | 4 | 83452469 | intron variant | A/G | snv | 0.60 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
1 | 13 | 60539605 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
1 | 12 | 66310445 | missense variant | A/G | snv | 3.1E-02 | 2.5E-02 | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||
|
1 | 19 | 55322386 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||
|
1 | 4 | 48684940 | intron variant | G/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 97303497 | intergenic variant | C/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 9 | 106179228 | intron variant | A/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 171134461 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 11893261 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 81524000 | intergenic variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 2 | 81441684 | intergenic variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 16 | 53874572 | intron variant | T/C | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 89335895 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 9 | 32975212 | non coding transcript exon variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 121753584 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 |