SNCA, synuclein alpha, 6622
N. diseases: 449; N. variants: 66
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 4 | 89791478 | intron variant | T/C | snv | 0.17 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.080 | 4 | 89726127 | 3 prime UTR variant | G/A | snv | 4.7E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 4 | 89837794 | intron variant | A/G | snv | 0.57 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 4 | 89837238 | 5 prime UTR variant | G/C | snv | 0.58 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 4 | 89837896 | intron variant | G/C;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 4 | 89838736 | non coding transcript exon variant | A/C;G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 4 | 89704988 | intron variant | G/A | snv | 0.46 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 4 | 89784213 | intron variant | A/G | snv | 0.80 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 4 | 89836243 | intron variant | G/C | snv | 0.58 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 4 | 89794080 | intron variant | C/T | snv | 6.7E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 89805385 | intron variant | C/T | snv | 6.7E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 4 | 89725318 | 3 prime UTR variant | -/TAA;TAAAA | ins |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 89835568 | missense variant | T/C | snv | 4.0E-06 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.851 | 0.160 | 4 | 89828148 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.070 | 1.000 | 7 | 2013 | 2020 | ||||||||
|
0.851 | 0.080 | 4 | 89828156 | missense variant | A/C | snv | 8.0E-05 | 7.0E-05 |
|
Nervous System Diseases | 0.090 | 1.000 | 9 | 2013 | 2019 | ||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.100 | 0.980 | 153 | 1997 | 2020 | ||||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.100 | 0.957 | 70 | 1998 | 2019 | ||||||||
|
0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.100 | 1.000 | 28 | 2005 | 2019 | |||||||
|
1.000 | 0.040 | 4 | 89808451 | intron variant | A/G | snv | 0.78 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1.000 | 0.040 | 4 | 89763127 | intron variant | A/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 4 | 89836158 | 5 prime UTR variant | A/G | snv | 0.77 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 89836354 | intron variant | T/C | snv | 0.78 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 89721993 | intron variant | C/T | snv | 0.80 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 4 | 89821664 | intron variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |