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 | 123396542 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 79473182 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 32180254 | synonymous variant | A/G | snv | 0.13 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 16 | 15037797 | 3 prime UTR variant | -/A;AA;AAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 22 | 45752271 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 130764699 | intergenic variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 26581807 | intergenic variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 653245 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 2560680 | upstream gene variant | A/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 223072020 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 96882719 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 19 | 50637155 | intron variant | C/T | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 31130672 | 3 prime UTR variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 26805992 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 146194776 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 27645689 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 40782400 | intron variant | A/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 150469527 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 35156031 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 9 | 124021568 | intron variant | C/T | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 18 | 60181298 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 22 | 45413817 | 5 prime UTR variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 85770262 | intron variant | A/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 96520975 | intron variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 18 | 901685 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 |