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 | 5 | 35230278 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 7 | 25818994 | intergenic variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 150338437 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 20 | 57565924 | 3 prime UTR variant | T/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 12011623 | 3 prime UTR variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 11825688 | 3 prime UTR variant | C/T | snv | 0.12 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 10319881 | intron variant | A/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 10337976 | intron variant | T/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 69217077 | intron variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 247448993 | 3 prime UTR variant | C/T | snv | 0.55 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
5 | 3 | 129615390 | intergenic variant | C/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 10341235 | intron variant | C/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 42827999 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 165401015 | 3 prime UTR variant | G/C | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 111079134 | synonymous variant | C/A | snv | 7.4E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 8 | 37966397 | missense variant | C/T | snv | 8.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 57561937 | non coding transcript exon variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 141719385 | 5 prime UTR variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 2702374 | intron variant | G/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 20718009 | intron variant | A/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 69225511 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 2129214 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 3 | 148746667 | downstream gene variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 43779840 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 5 | 68268555 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 |