SPECC1, sperm antigen with calponin homology and coiled-coil domains 1, 92521
N. diseases: 47; N. variants: 151
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 20176147 | intron variant | A/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20261938 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20259759 | intron variant | C/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20259435 | intron variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20248360 | intron variant | G/A | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20232903 | intron variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20230976 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20227880 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20227139 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20226761 | intron variant | C/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20223705 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20200447 | intron variant | A/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20194149 | intron variant | A/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20226841 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20228140 | intron variant | C/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20228501 | intron variant | T/C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20230225 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20241401 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20241486 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20259896 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20260216 | synonymous variant | A/G | snv | 0.67 | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 20263637 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20170025 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20182455 | intron variant | G/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20183249 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |