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 | 207107394 | intron variant | A/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 88950086 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 5669314 | intron variant | A/G;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 106734102 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 68746168 | intergenic variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 90976901 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 56903940 | upstream gene variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 30893304 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 18 | 69869260 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 1074316 | intron variant | C/T | snv | 5.7E-02 | 6.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 3 | 56800771 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 116904931 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 8 | 19167306 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 95294018 | upstream gene variant | G/T | snv | 0.92 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 49805941 | non coding transcript exon variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 59035769 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 13 | 46668723 | intron variant | TGGCGGGGTGGCGGGG/-;TGGCGGGG;TGGCGGGGTGGCGGGGTGGCGGGG | delins | 0.71 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 31737349 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 50741955 | non coding transcript exon variant | G/A | snv | 1.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 156911263 | intron variant | CCTC/- | delins | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 112394994 | synonymous variant | G/A | snv | 1.5E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 7 | 73772015 | upstream gene variant | TAAAATAAAATAAA/- | delins | 6.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 32665726 | intergenic variant | CGTGTG/- | delins | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 6180053 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 28877395 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |