KCNV2, potassium voltage-gated channel modifier subfamily V member 2, 169522
N. diseases: 19; N. variants: 15
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 | 0.080 | 9 | 2729465 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 9 | 2718506 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 9 | 2729470 | stop gained | G/A;T | snv | 1.3E-04; 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 5 | 2008 | 2013 | |||||||
|
0.882 | 0.080 | 9 | 2718093 | frameshift variant | CC/-;CCC | delins | 2.8E-05 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 9 | 2718093 | frameshift variant | CC/-;CCC | delins | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 2718116 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 9 | 2717745 | frameshift variant | AACA/- | delins |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 9 | 2718166 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 2718655 | stop gained | G/A;C;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 2718181 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 9 | 2718093 | frameshift variant | CC/-;CCC | delins | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
9 | 2717843 | frameshift variant | -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 9 | 2717965 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 2718230 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 2718303 | stop gained | G/A;C | snv | 4.2E-06; 8.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 2718746 | inframe deletion | ACCTGGTGG/-;ACCTGGTGGACCTGGTGG | delins | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 2717745 | frameshift variant | AACA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
9 | 2718301 | missense variant | T/A;G | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 9 | 2729470 | stop gained | G/A;T | snv | 1.3E-04; 2.0E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |