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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.900 | 0.933 | 15 | 2005 | 2019 | |||
|
8 | 0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 32403492 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 32403402 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 6 | 32402907 | intron variant | A/G | snv | 0.26 | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.160 | 6 | 32402839 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32400018 | intron variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32399945 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 6 | 32399240 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 32406845 | non coding transcript exon variant | A/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32408841 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 32408969 | upstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.240 | 6 | 32403842 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32407968 | upstream gene variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 32396067 | synonymous variant | C/T | snv | 0.26 | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 6 | 32396579 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32400000 | intron variant | A/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 32406354 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 32409105 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 32409155 | upstream gene variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32409284 | upstream gene variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32409339 | upstream gene variant | C/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32409693 | upstream gene variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32409762 | upstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32409811 | upstream gene variant | T/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 |