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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 19 | 45423352 | missense variant | T/A;C | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 89751681 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 188369840 | intron variant | C/T | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.240 | 11 | 61828092 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 22 | 41371482 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 30430063 | intergenic variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30459733 | downstream gene variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.040 | 6 | 31291060 | intron variant | G/A | snv | 0.44 | 0.820 | 1.000 | 3 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 30470779 | downstream gene variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30453620 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30446458 | upstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30443312 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 29861103 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 6 | 32623514 | upstream gene variant | T/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 30426851 | intergenic variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30424629 | intergenic variant | C/A;T | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30424383 | intergenic variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30423946 | downstream gene variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30418117 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30416961 | intron variant | C/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30416540 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 6 | 30414663 | upstream gene variant | G/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30411297 | upstream gene variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30410824 | upstream gene variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 |