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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 22 | 19724571 | 3 prime UTR variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 49805941 | non coding transcript exon variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 29313675 | 3 prime UTR variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 22 | 42700990 | intron variant | G/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 50668551 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 22 | 42991689 | intron variant | G/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 20 | 1943088 | upstream gene variant | T/G | snv | 0.46 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
2 | 20 | 59023277 | intron variant | -/AA | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 45796388 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 1620279 | upstream gene variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 20 | 1944061 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 20 | 59035769 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 20 | 59038947 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 20 | 1838634 | TF binding site variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 47315915 | intron variant | G/C | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 1970274 | intron variant | A/G | snv | 4.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 58977406 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 1795547 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 20 | 1811274 | intron variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 20 | 59023753 | missense variant | G/A | snv | 8.7E-04 | 9.0E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 20 | 59012716 | intergenic variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 1940877 | downstream gene variant | C/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 19323142 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 57411745 | downstream gene variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 14407569 | intron variant | C/T | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 |