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 | 0.040 | 7 | 38317593 | 5 prime UTR variant | T/C | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 38323965 | upstream gene variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 14 | 22446824 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 38290217 | downstream gene variant | G/A | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 14 | 22268637 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 14 | 22026498 | regulatory region variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 14 | 22393232 | intron variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214754055 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 7738307 | missense variant | C/T | snv | 2.1E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 7 | 38284089 | intergenic variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214730921 | non coding transcript exon variant | C/T | snv | 0.30 | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 14 | 22020341 | intergenic variant | T/C | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 143550435 | intron variant | T/C | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 143569860 | intron variant | G/A | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 143545399 | intron variant | C/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 38316944 | downstream gene variant | C/T | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 38323356 | upstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 7 | 38324688 | upstream gene variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 14 | 22457927 | intron variant | C/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 38286376 | intergenic variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 38291209 | downstream gene variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 7 | 38291670 | missense variant | C/A | snv | 6.2E-02 | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 7 | 38291903 | missense variant | C/T | snv | 6.5E-02 | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 14 | 22456360 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 7 | 142739784 | upstream gene variant | A/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 |