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 | 0.080 | 22 | 29995001 | non coding transcript exon variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 29904123 | intron variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30026876 | 3 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30036148 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30044544 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30045688 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 29972395 | intron variant | T/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30116425 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30116139 | intron variant | G/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 29912791 | intron variant | G/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30097929 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 31194743 | upstream gene variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 29908245 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30166998 | intron variant | A/C;G | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30078227 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30166250 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 6 | 77839560 | intron variant | C/A;T | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30201821 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30201891 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30208113 | upstream gene variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30150256 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 29892636 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30104969 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 30159227 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 13 | 48453041 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |