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 | 20125857 | intron variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20135858 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20056653 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20060292 | intron variant | T/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20060292 | intron variant | T/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 20089201 | intron variant | G/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20118722 | intron variant | G/A;T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20120782 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20127647 | intron variant | A/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20174824 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20011086 | intron variant | T/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20315480 | 3 prime UTR variant | T/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20119786 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20119796 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20293320 | intron variant | C/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20115528 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20316195 | 3 prime UTR variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20185179 | non coding transcript exon variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20199939 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20268211 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20235777 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20306408 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 20179913 | intron variant | T/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20175651 | intron variant | C/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 20224716 | intron variant | C/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |