C11orf65, chromosome 11 open reading frame 65, 160140
N. diseases: 45; N. variants: 387
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 | 0.200 | 11 | 108345797 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1997 | 2015 | ||||||||
|
1.000 | 0.200 | 11 | 108343246 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1999 | 2015 | |||||||
|
11 | 108343231 | frameshift variant | TCTC/-;TC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1996 | 2009 | ||||||||||
|
0.925 | 0.200 | 11 | 108365476 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1996 | 2016 | ||||||
|
0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1996 | 2011 | |||||||
|
11 | 108365382 | frameshift variant | AACTGAAAGGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2003 | 2017 | ||||||||||
|
11 | 108333941 | inframe deletion | TGT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1999 | 2011 | ||||||||||
|
0.925 | 0.280 | 11 | 108332765 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1996 | 2004 | |||||||
|
1.000 | 0.200 | 11 | 108332851 | frameshift variant | TATTA/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1996 | 2013 | |||||||
|
1.000 | 0.200 | 11 | 108345869 | stop gained | C/A;G;T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1999 | 2016 | ||||||
|
0.925 | 0.280 | 11 | 108310305 | stop gained | C/T | snv | 3.2E-05 | 2.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2015 | ||||||
|
11 | 108317500 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2008 | 2015 | ||||||||||
|
1.000 | 0.200 | 11 | 108354838 | frameshift variant | GAGAAACTCTC/- | del | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2008 | |||||||
|
1.000 | 0.200 | 11 | 108326152 | frameshift variant | -/A | delins | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2002 | 2012 | ||||||
|
0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2016 | |||||||
|
1.000 | 0.200 | 11 | 108354855 | frameshift variant | CT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1996 | 2009 | ||||||||
|
1.000 | 0.200 | 11 | 108312467 | frameshift variant | TAAAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1996 | 2006 | ||||||||
|
1.000 | 0.200 | 11 | 108365400 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2003 | 2015 | ||||||||
|
1.000 | 0.200 | 11 | 108316069 | missense variant | G/A | snv | 6.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2015 | ||||||
|
1.000 | 0.200 | 11 | 108310188 | frameshift variant | G/CCT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2018 | ||||||||
|
1.000 | 0.200 | 11 | 108329112 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||||||
|
1.000 | 0.200 | 11 | 108365415 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2000 | 2011 | ||||||||
|
1.000 | 0.200 | 11 | 108365324 | splice acceptor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2017 | ||||||||
|
1.000 | 0.200 | 11 | 108329120 | stop gained | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1998 | 2006 | |||||||
|
1.000 | 0.200 | 11 | 108331951 | frameshift variant | GA/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2003 |