L1CAM, L1 cell adhesion molecule, 3897
N. diseases: 289; N. variants: 35
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | X | 153870933 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 21 | 1993 | 2013 | ||||||||
|
1.000 | 0.080 | X | 153870403 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.925 | 0.200 | X | 153862856 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.925 | 0.120 | X | 153870475 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.851 | 0.240 | X | 153870123 | synonymous variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.720 | 1.000 | 2 | 1998 | 2014 | ||||||||
|
0.925 | 0.200 | X | 153870948 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.882 | 0.200 | X | 153869818 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.882 | 0.200 | X | 153866826 | missense variant | C/T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2013 | |||||||
|
1.000 | 0.080 | X | 153866729 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.925 | 0.200 | X | 153868690 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
0.925 | 0.200 | X | 153867401 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||||||
|
1.000 | 0.080 | X | 153867530 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 153866802 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 153866700 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 153865838 | non coding transcript exon variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 153863550 | splice acceptor variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 153868390 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 153866778 | missense variant | C/T | snv | 2.1E-03 | 1.8E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 1997 | 2012 | ||||||
|
0.882 | 0.200 | X | 153870854 | missense variant | G/A;C;T | snv | 9.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 |