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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv | 0.850 | 1.000 | 16 | 1998 | 2017 | |||||
|
9 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.760 | 1.000 | 8 | 2001 | 2014 | |||||
|
6 | 1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 | 0.750 | 1.000 | 12 | 2004 | 2019 | ||||
|
12 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.740 | 0.875 | 8 | 1999 | 2016 | |||||
|
2 | 1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv | 0.730 | 0.900 | 10 | 2005 | 2019 | |||||
|
3 | 0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv | 0.730 | 1.000 | 9 | 1999 | 2018 | |||||
|
10 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.730 | 1.000 | 4 | 2006 | 2017 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 5 | 2005 | 2014 | |||||
|
4 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 0.710 | 1.000 | 3 | 2007 | 2013 | |||||
|
1 | 4 | 54727501 | inframe deletion | GAT/- | delins | 0.700 | 1.000 | 5 | 1998 | 2015 | |||||||
|
3 | 0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 4 | 54733175 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
1 | 4 | 54727909 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1995 | 2007 | |||||||
|
5 | 0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||
|
2 | 1.000 | 0.080 | 4 | 54736528 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
2 | 1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 4 | 54727438 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 4 | 54727439 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 4 | 54727447 | missense variant | TT/AA | mnv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 4 | 54727438 | missense variant | GG/TT | mnv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
2 | 1.000 | 0.040 | 4 | 54727442 | missense variant | G/A;C;T | snv | 6.0E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 4 | 54733162 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
1 | 4 | 54727414 | splice region variant | AAACCCATGTATGAAGTACAGTGGAAG/- | delins | 0.700 | 0 |