STAT1, signal transducer and activator of transcription 1, 6772
N. diseases: 531; N. variants: 41
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 2 | 190995185 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 12 | 2011 | 2017 | |||||||||
|
0.851 | 0.080 | 2 | 190995205 | missense variant | G/A | snv |
|
0.800 | 1.000 | 10 | 2011 | 2016 | |||||||||
|
0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv |
|
0.800 | 1.000 | 10 | 2011 | 2017 | |||||||||
|
0.851 | 0.080 | 2 | 190995185 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 9 | 2011 | 2017 | |||||||||
|
0.851 | 0.080 | 2 | 190995185 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 9 | 2011 | 2017 | |||||||||
|
0.851 | 0.080 | 2 | 190995205 | missense variant | G/A | snv |
|
Infections; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 9 | 2011 | 2017 | ||||||||
|
0.851 | 0.080 | 2 | 190995205 | missense variant | G/A | snv |
|
0.700 | 1.000 | 7 | 2011 | 2016 | |||||||||
|
0.851 | 0.080 | 2 | 190995205 | missense variant | G/A | snv |
|
0.700 | 1.000 | 7 | 2011 | 2016 | |||||||||
|
0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2012 | 2017 | |||||||||
|
0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2012 | 2017 | |||||||||
|
0.790 | 0.200 | 2 | 190995184 | missense variant | C/T | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | |||||||||
|
1.000 | 2 | 190995148 | missense variant | T/A | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
0.925 | 0.080 | 2 | 190998246 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | |||||||||
|
1.000 | 2 | 190999647 | missense variant | A/G | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190999673 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190995143 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190999659 | missense variant | A/T | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190999674 | missense variant | C/G | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190995193 | missense variant | T/G | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190999630 | missense variant | G/T | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190995151 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
1.000 | 2 | 190995173 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2011 | 2015 | ||||||||||
|
0.925 | 0.080 | 2 | 190975830 | missense variant | A/G | snv |
|
0.800 | 1.000 | 3 | 2001 | 2012 | |||||||||
|
1.000 | 2 | 190978930 | missense variant | A/G | snv |
|
0.800 | 1.000 | 3 | 2003 | 2013 | ||||||||||
|
0.925 | 0.080 | 2 | 190983699 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 3 | 2001 | 2012 |