COL1A2, collagen type I alpha 2 chain, 1278
N. diseases: 271; N. variants: 178
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 | 0.120 | 7 | 94409795 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 16 | 1993 | 2017 | |||||||||
|
0.882 | 0.120 | 7 | 94425664 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 11 | 1984 | 2018 | |||||||||
|
0.882 | 0.120 | 7 | 94412095 | missense variant | G/A | snv |
|
0.700 | 1.000 | 10 | 1993 | 2016 | |||||||||
|
0.763 | 0.240 | 7 | 94426459 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 10 | 1993 | 2016 | |||||||||
|
0.882 | 0.120 | 7 | 94410278 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 9 | 1993 | 2018 | |||||||||
|
0.882 | 0.120 | 7 | 94409367 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 8 | 1993 | 2017 | |||||||
|
0.925 | 0.120 | 7 | 94421027 | missense variant | G/A | snv |
|
0.700 | 1.000 | 8 | 1993 | 2016 | |||||||||
|
0.882 | 0.200 | 7 | 94401565 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 7 | 1984 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 94411128 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 1993 | 2011 | |||||||||
|
0.925 | 0.120 | 7 | 94413092 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 1993 | 2009 | |||||||||
|
0.925 | 0.120 | 7 | 94414222 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 6 | 1993 | 2015 | |||||||||
|
0.925 | 0.120 | 7 | 94422994 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 1993 | 2016 | |||||||||
|
0.925 | 0.120 | 7 | 94404849 | missense variant | G/A;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 6 | 1993 | 2014 | ||||||||
|
0.925 | 0.120 | 7 | 94404574 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 5 | 1993 | 2009 | |||||||
|
0.925 | 0.120 | 7 | 94404893 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 5 | 1984 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 94404858 | missense variant | G/T | snv |
|
0.700 | 1.000 | 5 | 1993 | 2009 | |||||||||
|
0.776 | 0.240 | 7 | 94410457 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 5 | 1993 | 2009 | |||||||||
|
0.925 | 0.120 | 7 | 94413708 | missense variant | G/A | snv |
|
0.700 | 1.000 | 5 | 1993 | 2009 | |||||||||
|
0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 4 | 1995 | 2012 | |||||||||
|
0.882 | 0.120 | 7 | 94406286 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2006 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 94404893 | splice region variant | AGTA/- | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 7 | 94404702 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 7 | 94405197 | splice acceptor variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94408815 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94412656 | missense variant | G/C | snv |
|
0.700 | 0 |