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 | 1.000 | 0.080 | 1 | 203199346 | intergenic variant | A/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 18 | 56261410 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 1 | 202082885 | TF binding site variant | T/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 203190998 | upstream gene variant | G/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
4 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 203196253 | intergenic variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.080 | 9 | 108879545 | missense variant | G/A | snv | 0.19 | 0.22 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.851 | 0.080 | 16 | 27363708 | missense variant | T/C | snv | 7.4E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.080 | 9 | 108889340 | missense variant | A/G;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.160 | 6 | 137198101 | missense variant | A/G | snv | 5.1E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 7 | 137015915 | synonymous variant | A/G | snv | 2.6E-03 | 6.9E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.080 | 13 | 48707418 | missense variant | A/G | snv | 1.7E-02 | 1.7E-02 | 0.020 | 1.000 | 2 | 2003 | 2004 | |||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 19 | 6677978 | synonymous variant | G/A;C | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
26 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 12 | 8604885 | missense variant | G/A;T | snv | 0.60 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 12 | 117330605 | synonymous variant | G/A;C | snv | 4.5E-05 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 5 | 132674129 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 67586109 | synonymous variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 11 | 60852184 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
10 | 0.776 | 0.280 | 4 | 24799565 | missense variant | C/T | snv | 8.8E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.851 | 0.160 | 5 | 148101392 | missense variant | A/G | snv | 0.52 | 0.44 | 0.030 | 1.000 | 3 | 2004 | 2005 | |||
|
8 | 0.776 | 0.280 | 19 | 3595796 | missense variant | A/G | snv | 0.56 | 0.66 | 0.030 | 0.667 | 3 | 2000 | 2005 | |||
|
1 | 1.000 | 0.080 | 16 | 50725636 | intron variant | A/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |