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 | 7 | 999367 | intron variant | A/C | snv | 0.62 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 17 | 81288009 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 3 | 96431316 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 8 | 71382353 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 8 | 31147066 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 1 | 21378943 | regulatory region variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 126665850 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 62516455 | non coding transcript exon variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 8390126 | intron variant | G/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 22 | 37217269 | upstream gene variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 1371339 | intron variant | T/C | snv | 0.55 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 110368883 | intron variant | T/G | snv | 8.7E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 50288880 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 5 | 174283195 | intergenic variant | T/- | del | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 102438768 | intergenic variant | C/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 162964207 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 21 | 13377702 | intergenic variant | G/A | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 42267463 | non coding transcript exon variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 37834896 | intron variant | C/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 20 | 61637438 | intron variant | C/T | snv | 0.60 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 10 | 4007811 | intergenic variant | A/G | snv | 0.53 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 92134309 | missense variant | A/G | snv | 4.3E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 75968235 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 14 | 90292547 | non coding transcript exon variant | G/T | snv | 0.18 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 12 | 130437119 | missense variant | G/A;C | snv | 9.2E-06; 5.3E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 |