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 | 0.882 | 0.080 | 12 | 12916590 | 3 prime UTR variant | A/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 14 | 90719521 | intron variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 2 | 63550724 | intron variant | T/C | snv | 4.9E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 22 | 38141105 | non coding transcript exon variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 12 | 12922268 | downstream gene variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 4 | 71769258 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 11 | 69152181 | intron variant | A/G | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 63942595 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 31972346 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 1 | 226415934 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 21 | 41373487 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 10 | 5742188 | missense variant | A/C;G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 2 | 38090568 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 7 | 124756591 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 7 | 131070053 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 2 | 239154306 | intron variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 224742 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 107936435 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 1 | 150860534 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 11 | 108316962 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 20 | 63638397 | downstream gene variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 9 | 21971160 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.080 | 7 | 16944656 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.851 | 0.080 | 11 | 69552350 | intergenic variant | A/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2015 | 2018 |