CYP27C1, cytochrome P450 family 27 subfamily C member 1, 339761
N. diseases: 2; N. variants: 11
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 127188750 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127188750 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127188924 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127188924 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127193421 | intron variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2010 | 2014 | ||||||||||
|
2 | 127193421 | intron variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2010 | 2014 | ||||||||||
|
2 | 127195478 | synonymous variant | A/C | snv | 0.26 | 0.32 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
2 | 127195478 | synonymous variant | A/C | snv | 0.26 | 0.32 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
2 | 127198967 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127198967 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127200465 | intron variant | C/A;G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127200465 | intron variant | C/A;G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127204917 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
2 | 127204917 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
2 | 127213606 | intron variant | T/C | snv | 9.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 127213606 | intron variant | T/C | snv | 9.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 127214652 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
2 | 127214652 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
2 | 127219241 | intron variant | C/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127219241 | intron variant | C/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127219542 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127219542 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |