CNNM4, cyclin and CBS domain divalent metal cation transport mediator 4, 26504
N. diseases: 39; N. variants: 9
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 | 0.120 | 2 | 96761970 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 2 | 96761706 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 2 | 96761598 | missense variant | C/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.800 | 0 | ||||||||||
|
0.882 | 0.120 | 2 | 96799118 | stop gained | C/G;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 96797521 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 96809338 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 2 | 96799065 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 2 | 96799056 | splice acceptor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 96799188 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |