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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.744 | 0.143 | 10 | 122454932 | missense variant | G/T | snp | 0.26 | 0.25 | 0.770 | 0.857 | 8 | 2009 | 2016 | |||
|
53 | 0.575 | 0.607 | 1 | 196690107 | missense variant | C/T | snp | 0.68 | 0.63 | 0.720 | 1.000 | 3 | 2006 | 2012 | |||
|
4 | 0.878 | 0.036 | 19 | 6718376 | missense variant | G/C,T | snp | 0.15 | 0.14 | 0.700 | 2 | 2012 | 2016 | ||||
|
4 | 0.846 | 0.036 | 4 | 109737911 | intron variant | T/C | snp | 0.52 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 9 | 74002804 | intergenic variant | T/G | snp | 0.55 | 0.700 | 1 | 2016 | 2016 | |||||
|
4 | 0.846 | 0.071 | 1 | 196735502 | intron variant | C/A | snp | 0.44 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 17 | 28322698 | intron variant | A/C | snp | 0.53 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 5 | 35494346 | G/A,T | snp | 2.7E-02 | 0.700 | 1 | 2016 | 2016 | ||||||
|
3 | 0.878 | 0.036 | 7 | 105115879 | intron variant | C/T | snp | 0.31; 3.2E-05 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 2 | 227222204 | intron variant | T/A,C | snp | 0.65 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 19 | 5835666 | intron variant | G/A | snp | 0.11 | 0.700 | 1 | 2016 | 2016 | |||||
|
11 | 0.744 | 0.214 | 1 | 196747245 | missense variant | C/T | snp | 1.4E-04 | 1.6E-04 | 0.700 | 1 | 2016 | 2016 | ||||
|
3 | 0.878 | 0.036 | 10 | 24710664 | intron variant | G/A | snp | 0.17 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 8 | 23225458 | non coding transcript exon variant | G/A,C,T | snp | 0.41 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 3 | 99461824 | T/C | snp | 1.5E-02 | 0.700 | 1 | 2016 | 2016 | ||||||
|
5 | 0.846 | 0.036 | 4 | 109764664 | missense variant | C/T | snp | 4.2E-04 | 4.5E-04 | 0.700 | 1 | 2016 | 2016 | ||||
|
3 | 0.878 | 0.036 | 20 | 45986353 | TTTTC/T | in-del | 0.700 | 1 | 2016 | 2016 | |||||||
|
4 | 0.846 | 0.036 | 19 | 6718135 | missense variant | T/G | snp | 2.8E-03 | 2.0E-03 | 0.700 | 1 | 2016 | 2016 | ||||
|
3 | 0.878 | 0.036 | 1 | 196644043 | T/C | snp | 7.6E-03 | 0.700 | 1 | 2016 | 2016 | ||||||
|
5 | 0.821 | 0.107 | 9 | 99161090 | G/A,T | snp | 0.25 | 0.700 | 1 | 2016 | 2016 | ||||||
|
8 | 0.878 | 0.036 | 16 | 56960616 | intergenic variant | C/G,T | snp | 0.28 | 0.26 | 0.700 | 1 | 2016 | 2016 | ||||
|
2 | 0.923 | 0.036 | 18 | 77147088 | regulatory region variant | C/A | snp | 0.62 | 0.700 | 1 | 2012 | 2012 | |||||
|
3 | 0.878 | 0.036 | 6 | 31979250 | intron variant | G/C,T | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
3 | 0.878 | 0.036 | 1 | 196411028 | intron variant | C/T | snp | 1.4E-02 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.036 | 1 | 196989521 | intron variant | C/G | snp | 4.1E-03 | 0.700 | 1 | 2016 | 2016 |