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 | 8 | 91890204 | intron variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 100987350 | non coding transcript exon variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 42101357 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 6 | 31116450 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 17 | 44383518 | synonymous variant | G/A;T | snv | 6.5E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 12 | 121185082 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 7 | 155082904 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 208384849 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 45816520 | missense variant | C/A;T | snv | 4.0E-06; 6.4E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 6300980 | stop gained | C/G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 4 | 6291969 | synonymous variant | C/G | snv | 0.72 | 0.68 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 2 | 183742707 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 13 | 46856141 | non coding transcript exon variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 11 | 66874925 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 3983435 | missense variant | T/A;C | snv | 4.4E-06; 0.29 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
2 | 1 | 7796286 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 2036515 | intergenic variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 2024923 | non coding transcript exon variant | G/A | snv | 0.80 | 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1 | 7830057 | missense variant | T/C | snv | 0.14 | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 206117948 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 17 | 30204775 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 88709286 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 71930591 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 1 | 65942328 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 17 | 7203556 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |