EIF2B5, eukaryotic translation initiation factor 2B subunit epsilon, 8893
N. diseases: 84; N. variants: 32
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 | 0.040 | 3 | 184136687 | missense variant | A/G | snv | 3.6E-05 | 3.5E-05 |
|
Nervous System Diseases | 0.800 | 1.000 | 9 | 2001 | 2011 | ||||||
|
1.000 | 0.040 | 3 | 184144111 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 6 | 2001 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 184140122 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05 |
|
Nervous System Diseases | 0.800 | 1.000 | 6 | 2001 | 2011 | |||||||
|
1.000 | 0.040 | 3 | 184137975 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
Nervous System Diseases | 0.710 | 1.000 | 2 | 2002 | 2015 | ||||||
|
0.882 | 0.160 | 3 | 184137637 | missense variant | G/A | snv | 2.1E-04 | 2.7E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 3 | 184136734 | missense variant | A/T | snv | 4.4E-05 | 2.1E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 1998 | 2014 | ||||||
|
0.882 | 0.160 | 3 | 184137637 | missense variant | G/A | snv | 2.1E-04 | 2.7E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2003 | 2014 | ||||||
|
1.000 | 0.040 | 3 | 184140499 | missense variant | G/C | snv | 1.2E-05 | 1.4E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.040 | 3 | 184140590 | missense variant | G/A;C;T | snv | 6.0E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 3 | 184144175 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 184135551 | missense variant | T/G | snv | 4.8E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 3 | 184136619 | missense variant | T/C | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 3 | 184136634 | missense variant | T/G | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 184136636 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 184136734 | missense variant | A/T | snv | 4.4E-05 | 2.1E-05 |
|
Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 3 | 184137636 | missense variant | C/T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 3 | 184137936 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 3 | 184137974 | missense variant | C/T | snv | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 3 | 184137974 | missense variant | C/T | snv | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 3 | 184140120 | stop gained | G/A;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 3 | 184140119 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 184140470 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 184140503 | missense variant | G/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 |
|
Nervous System Diseases | 0.700 | 0 |