ARX, aristaless related homeobox, 170302
N. diseases: 249; N. variants: 44
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 | 0.160 | X | 25010274 | stop gained | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 25013654 | inframe insertion | CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC/-;CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC | delins | 9.9E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | X | 25012956 | missense variant | A/C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 25013533 | inframe insertion | -/GGCCGCGGCCGCGGCTGCCGCGGCGGC | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | X | 25013536 | inframe insertion | -/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 25004755 | missense variant | A/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.040 | X | 25015657 | stop gained | G/C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 25004894 | frameshift variant | C/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 25012988 | frameshift variant | GTGAAC/TGGTACA | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 25015654 | stop gained | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | X | 25013660 | inframe insertion | CGCCGCCGCCGCCGCCGC/-;CGC;CGCCGC;CGCCGCCGC;CGCCGCCGCCGC;CGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 8 | 2002 | 2015 | ||||||||
|
0.882 | 0.160 | X | 25013531 | inframe insertion | GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC | delins | 6.8E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 8 | 2002 | 2015 | |||||||
|
0.882 | 0.120 | X | 25013544 | inframe insertion | GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2006 | 2015 | ||||||||
|
0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 3 | 2002 | 2017 |