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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 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 | ||||||||||||
|
0.925 | 0.120 | 7 | 94412683 | splice donor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94415254 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94425162 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94425199 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94401620 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 7 | 94401622 | splice donor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94409592 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 7 | 94409732 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94412657 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94420292 | splice region variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94423119 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 7 | 94427288 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 7 | 94409403 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 94413092 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 1993 | 2009 | |||||||||
|
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 | 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 | |||||||||
|
0.925 | 0.120 | 7 | 94411128 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 1993 | 2011 | |||||||||
|
0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 4 | 1995 | 2012 | |||||||||
|
0.925 | 0.120 | 7 | 94404893 | splice region variant | AGTA/- | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 |