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 | 1.000 | 0.040 | 9 | 113044209 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 12 | 57475293 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 8 | 142915200 | missense variant | A/T | snv | 1.3E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.040 | 11 | 128900463 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 21 | 42762099 | missense variant | C/G;T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 8 | 142877177 | missense variant | T/A;C | snv | 1.1E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.040 | 19 | 39706652 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 3 | 184359124 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 119410216 | upstream gene variant | G/A | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 3 | 148720404 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | 11 | 128911776 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 11 | 128916399 | intron variant | G/A;C | snv | 0.73 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 16 | 1218616 | missense variant | T/A | snv | 1.0E-04 | 5.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 11 | 128890715 | upstream gene variant | G/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 11 | 128917535 | 3 prime UTR variant | G/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.040 | 3 | 184346710 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.040 | 3 | 184356994 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.040 | 3 | 184359119 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.040 | 3 | 184359130 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 1 | 119514535 | synonymous variant | C/T | snv | 0.45 | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.827 | 0.080 | 3 | 184358062 | missense variant | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.080 | 11 | 128911724 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.080 | 16 | 1212024 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 |