CYP21A2, cytochrome P450 family 21 subfamily A member 2, 1589
N. diseases: 166; N. variants: 222
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 |
|
Eye Diseases | 0.900 | 0.947 | 19 | 2007 | 2019 | |||||||
|
0.851 | 0.160 | 6 | 31962685 | intron variant | G/A | snv | 0.14 | 0.16 |
|
Eye Diseases | 0.870 | 1.000 | 12 | 2010 | 2019 | ||||||
|
0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 |
|
Eye Diseases | 0.860 | 1.000 | 8 | 2006 | 2018 | |||||||
|
0.882 | 0.160 | 6 | 31949174 | non coding transcript exon variant | T/C | snv | 0.12 |
|
Eye Diseases | 0.810 | 1.000 | 3 | 2012 | 2013 | |||||||
|
0.882 | 0.240 | 6 | 31965384 | intron variant | G/A | snv | 0.19 |
|
Eye Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 6 | 31952140 | 3 prime UTR variant | T/C | snv | 0.12 |
|
Eye Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 6 | 31938233 | intron variant | G/A | snv |
|
Eye Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.040 | 6 | 31962685 | intron variant | G/A | snv |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.925 | 0.160 | 6 | 31937353 | synonymous variant | G/A | snv | 9.7E-02 | 0.12 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.851 | 0.040 | 6 | 31979250 | intron variant | G/C;T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 6 | 31960529 | missense variant | A/G | snv | 9.7E-02 | 0.12 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.160 | 6 | 31922381 | intron variant | T/G | snv | 7.3E-02 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 6 | 31952910 | intron variant | C/T | snv | 0.12 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 6 | 31939370 | intron variant | T/C | snv | 9.7E-02 | 0.12 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.160 | 6 | 31943161 | intron variant | G/T | snv | 0.12 |
|
Eye Diseases | 0.100 | 1.000 | 14 | 2007 | 2018 | |||||||
|
0.790 | 0.320 | 6 | 31946247 | missense variant | T/A | snv | 3.9E-02 | 3.4E-02 |
|
Eye Diseases | 0.070 | 1.000 | 7 | 2009 | 2019 | ||||||
|
1.000 | 0.040 | 6 | 31933767 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Eye Diseases | 0.040 | 1.000 | 4 | 2006 | 2010 | ||||||
|
0.807 | 0.320 | 6 | 31951801 | 3 prime UTR variant | A/G | snv | 0.59 |
|
Eye Diseases | 0.030 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.882 | 0.200 | 6 | 31943672 | missense variant | A/C | snv | 4.1E-06 |
|
Eye Diseases | 0.030 | 1.000 | 3 | 2006 | 2009 | |||||||
|
0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2009 | 2019 | ||||||
|
0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 |
|
Eye Diseases | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||||
|
0.925 | 0.040 | 6 | 31933645 | missense variant | G/A;T | snv | 2.0E-05; 1.6E-05 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 31946529 | missense variant | G/A | snv | 7.7E-04 | 2.0E-04 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.040 | 6 | 31874821 | missense variant | T/A | snv | 0.15 | 0.11 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.160 | 6 | 31950687 | missense variant | A/G | snv | 1.1E-02 | 1.8E-02 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |