ARHGEF12, Rho guanine nucleotide exchange factor 12, 23365
N. diseases: 34; N. variants: 36
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 | 0.040 | 11 | 120469674 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
11 | 120422429 | intron variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
11 | 120418990 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
11 | 120341714 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120386786 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120364851 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120371214 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 120399540 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120420428 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120369228 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120399461 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120422429 | intron variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 120430095 | intron variant | T/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120454839 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
11 | 120454850 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.040 | 11 | 120469674 | intron variant | G/A | snv | 0.20 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
11 | 120423295 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120354080 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
11 | 120377633 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120351278 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
11 | 120371639 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120385628 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120350359 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 120477875 | intron variant | G/- | del | 2.3E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 120475651 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |