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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 2 | 2011 | 2017 | |||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 6 | 25373818 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 26255511 | upstream gene variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 25657063 | intron variant | A/G | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 38606304 | intron variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 32663606 | non coding transcript exon variant | TAGGATAT/- | delins | 6.2E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 109780207 | intron variant | G/A | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 32809593 | downstream gene variant | C/T | snv | 9.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 55020802 | intron variant | T/C | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 6 | 157434218 | intron variant | T/A | snv | 7.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 25494109 | intron variant | AGTT/- | delins | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 53669290 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 22 | 37109512 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 8 | 134507604 | intron variant | C/T | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 118970884 | intron variant | A/C | snv | 0.98 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
15 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 6 | 32213740 | synonymous variant | A/C;T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 17 | 77385957 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.040 | 2 | 133605461 | regulatory region variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 3 | 133758857 | intron variant | T/C;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 1.000 | 0.040 | 22 | 22158022 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 |