POLR1C, RNA polymerase I and III subunit C, 9533
N. diseases: 86; N. variants: 24
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 | 6 | 43519412 | missense variant | A/G | snv | 1.6E-05 | 2.8E-05 |
|
0.800 | 1.000 | 2 | 1978 | 2015 | ||||||||
|
1.000 | 6 | 43520344 | missense variant | G/A | snv | 5.6E-05 | 8.4E-05 |
|
0.800 | 1.000 | 2 | 1978 | 2015 | ||||||||
|
0.925 | 0.120 | 6 | 43519782 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 1 | 1978 | 1978 | ||||||||
|
1.000 | 6 | 43517324 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 1978 | 1978 | |||||||||
|
0.925 | 0.120 | 6 | 43520961 | missense variant | C/T | snv | 4.4E-05 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 1978 | 1978 | |||||||
|
1.000 | 6 | 43519384 | missense variant | A/G | snv | 8.5E-04; 4.0E-06 | 9.8E-04 |
|
0.700 | 1.000 | 1 | 1978 | 1978 | ||||||||
|
1.000 | 6 | 43517315 | missense variant | A/G | snv | 2.4E-05 | 5.6E-05 |
|
0.700 | 1.000 | 1 | 1978 | 1978 | ||||||||
|
0.925 | 0.120 | 6 | 43520962 | missense variant | G/A;C | snv | 2.0E-04 |
|
0.700 | 1.000 | 1 | 1978 | 1978 | ||||||||
|
1.000 | 6 | 43520078 | missense variant | G/A;C | snv | 3.1E-04; 2.8E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 6 | 43520668 | stop gained | C/A;G;T | snv | 8.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 1978 | 1978 | |||||||||
|
1.000 | 6 | 43517331 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 1978 | 1978 | ||||||||||
|
1.000 | 6 | 43520119 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 1978 | 1978 | ||||||||||
|
1.000 | 6 | 43517313 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 1978 | 1978 | ||||||||||
|
1.000 | 6 | 43521006 | inframe deletion | AAG/- | delins |
|
0.700 | 1.000 | 1 | 1978 | 1978 | ||||||||||
|
1.000 | 6 | 43517305 | splice acceptor variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 1978 | 1978 | |||||||||
|
1.000 | 6 | 43520385 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 6 | 43519737 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 6 | 43519820 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 43520754 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 |
|
0.700 | 0 |