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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 18 | 60185715 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2009 | 2019 | |||||
|
12 | 1.000 | 0.080 | 18 | 60161902 | upstream gene variant | T/C | snv | 0.21 | 0.800 | 1.000 | 2 | 2009 | 2015 | ||||
|
4 | 1.000 | 0.080 | 14 | 79474040 | intron variant | G/T | snv | 0.21 | 0.800 | 1.000 | 2 | 2009 | 2015 | ||||
|
2 | 1.000 | 0.080 | 16 | 53771053 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 16 | 53771295 | intron variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53781249 | intron variant | T/A;G | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53766475 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 1.000 | 0.080 | 16 | 19924067 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 18 | 60196859 | non coding transcript exon variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.080 | 18 | 60192330 | upstream gene variant | C/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 18 | 60194728 | upstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 16 | 53773852 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 16 | 53770428 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53772233 | intron variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 1.000 | 0.080 | 19 | 45698914 | intron variant | C/T | snv | 0.17 | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 16 | 53784796 | intron variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 1.000 | 0.040 | 1 | 77998184 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 18 | 60185354 | intergenic variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 18 | 60215554 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 18 | 60183189 | intergenic variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 10 | 102837167 | synonymous variant | C/A;T | snv | 0.40; 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.080 | 12 | 49869365 | 3 prime UTR variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 16 | 53794840 | intron variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2009 | 2009 |