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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 1 | 161167187 | missense variant | C/T | snv | 0.880 | 1.000 | 25 | 1996 | 2013 | |||||
|
1 | 1.000 | 0.160 | 1 | 161169070 | missense variant | G/C | snv | 0.800 | 1.000 | 20 | 1996 | 2013 | |||||
|
1 | 1.000 | 0.160 | 1 | 161168462 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1996 | 2013 | ||||
|
1 | 1.000 | 0.160 | 1 | 161166906 | missense variant | A/C | snv | 0.800 | 1.000 | 20 | 1996 | 2013 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.710 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.160 | 1 | 161171039 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1996 | 2013 | |||||
|
1 | 1.000 | 0.160 | 1 | 161170711 | missense variant | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2013 | ||||
|
1 | 1.000 | 0.160 | 1 | 161170493 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2013 | ||||
|
1 | 1.000 | 0.160 | 1 | 161168492 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2013 | |||
|
1 | 1.000 | 0.160 | 1 | 161167181 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2013 | ||||
|
3 | 0.882 | 0.200 | 1 | 161168069 | missense variant | G/A;C | snv | 1.2E-05; 8.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2013 | ||||
|
1 | 1.000 | 0.160 | 1 | 161166892 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1996 | 2013 | |||||
|
1 | 1.000 | 0.160 | 1 | 161170724 | missense variant | A/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2013 | ||||
|
1 | 1.000 | 0.160 | 1 | 161169903 | splice acceptor variant | TA/- | del | 0.700 | 1.000 | 3 | 1991 | 2001 | |||||
|
1 | 1.000 | 0.160 | 1 | 161167131 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 1 | 161170467 | stop lost | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 161168072 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 1 | 161168463 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 161169025 | missense variant | C/A;T | snv | 4.0E-06; 6.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 1 | 161167209 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 161170464 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 161171099 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 6 | 26092783 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 0.925 | 0.160 | 6 | 26091354 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 |