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 | 16 | 1984415 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 3 | 101565595 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 151405734 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 151436494 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 11 | 85635669 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | MT | 12271 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 12283 | non coding transcript exon variant | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | MT | 13051 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | MT | 7989 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
5 | 0.851 | 0.200 | MT | 8344 | non coding transcript exon variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.320 | MT | 14709 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | MT | 8839 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 22 | 42086238 | frameshift variant | CT/- | delins | 0.700 | 0 | |||||||||
|
18 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | MT | 9185 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | MT | 13513 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | MT | 11467 | synonymous variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 12372 | synonymous variant | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.200 | MT | 14674 | non coding transcript exon variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 226982969 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 22 | 42086261 | frameshift variant | A/- | delins | 1.1E-04 | 0.700 | 0 | ||||||||
|
4 | 0.925 | 4 | 185144891 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 4 | 185145863 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 17 | 18305208 | stop gained | G/A;T | snv | 1.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 22 | 42087124 | missense variant | C/G;T | snv | 1.1E-04 | 1.4E-05 | 0.700 | 0 |