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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | |||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 2 | 46126027 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 22 | 37113139 | upstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 22 | 37113146 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 22 | 37113047 | upstream gene variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
7 | 6 | 26125114 | intron variant | C/T | snv | 0.91 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 22 | 37042611 | regulatory region variant | G/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 10 | 69333636 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 6 | 26114280 | downstream gene variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
7 | 6 | 26107235 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
15 | 6 | 26104404 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
6 | 22 | 37032558 | upstream gene variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 22 | 37101553 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 22 | 37110640 | upstream gene variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 22 | 37110673 | upstream gene variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 22 | 37110836 | upstream gene variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 22 | 37028990 | non coding transcript exon variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 22 | 37112467 | upstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 20 | 52701812 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |