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 | 0.240 | 16 | 20348975 | missense variant | A/T | snv | 1.1E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.240 | 16 | 20349071 | missense variant | C/G;T | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
2 | 0.925 | 0.240 | 16 | 20348925 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.240 | 16 | 20348918 | missense variant | T/C | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.240 | 16 | 20348537 | missense variant | C/T | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
3 | 0.882 | 0.240 | 16 | 20348298 | missense variant | A/C | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.240 | 16 | 20348594 | missense variant | G/A | snv | 4.8E-06 | 0.700 | 1.000 | 14 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.240 | 16 | 20348249 | missense variant | T/G | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.240 | 16 | 20348858 | missense variant | C/T | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
2 | 0.925 | 0.240 | 16 | 20348652 | missense variant | A/C;G | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
2 | 0.925 | 0.240 | 16 | 20348557 | stop gained | G/C;T | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.240 | 16 | 20348714 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 16 | 20348484 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 16 | 20341205 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 16 | 20348247 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 16 | 20348746 | inframe deletion | GCGCCAGTACTCGTCCAGGGTGCGGTG/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 16 | 20348943 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 16 | 20348558 | missense variant | C/G | snv | 0.700 | 0 |