| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 5 | 39331792 | missense variant | G/A | snv | 5.2E-03 | 6.1E-03 | 0.020 | 1.000 | 2 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 12822189 | intron variant | A/G;T | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 21 | 38403680 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 40302730 | intergenic variant | A/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 72863136 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 16 | 10492245 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 2 | 210018157 | frameshift variant | ATCATTAAGTTTCACGGCCTTGGAAG/- | delins | 7.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 39288783 | missense variant | C/T | snv | 5.9E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 5 | 29538059 | intergenic variant | T/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 156383944 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 100114095 | 5 prime UTR variant | T/G | snv | 8.7E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 16 | 67454974 | non coding transcript exon variant | A/G | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 39341270 | missense variant | G/A | snv | 1.6E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 208217739 | missense variant | C/T | snv | 7.2E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 3 | 46358307 | synonymous variant | T/C | snv | 0.32 | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 107773050 | synonymous variant | A/G | snv | 2.8E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 17 | 1773615 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 33466057 | intron variant | GAGA/-;GA;GAGAGA | delins | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 8 | 10623069 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 196713816 | missense variant | C/T | snv | 8.8E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 7 | 159056130 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 236610853 | intergenic variant | C/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |