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 | 22 | 24603137 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 2 | 232648465 | intron variant | C/A;G | snv | 0.61 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 22 | 24600615 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
8 | 0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 22 | 23953099 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 12 | 121033534 | synonymous variant | G/A | snv | 0.32 | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 18 | 58416822 | non coding transcript exon variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 4 | 145873469 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
10 | 0.925 | 0.160 | 19 | 48702915 | intron variant | C/T | snv | 0.38 | 0.45 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
19 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 5 | 31020414 | intergenic variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 10 | 77920676 | intron variant | A/G;T | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 15 | 73685996 | intron variant | C/T | snv | 0.31 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 54059899 | intron variant | T/C | snv | 0.51 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 17 | 72102020 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 15 | 60585831 | intron variant | G/A | snv | 0.67 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 22 | 24599789 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 21 | 29182833 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 178544276 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 23050048 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 200291886 | intron variant | C/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 77876403 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 |