BCS1L, BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone, 617
N. diseases: 172; N. variants: 46
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 | 2 | 218662620 | missense variant | G/A | snv |
|
0.800 | 1.000 | 7 | 2001 | 2013 | ||||||||||
|
1.000 | 2 | 218661762 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.800 | 1.000 | 7 | 2001 | 2013 | |||||||||
|
1.000 | 2 | 218663183 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.800 | 1.000 | 7 | 2001 | 2013 | ||||||||
|
1.000 | 2 | 218661120 | missense variant | C/G;T | snv | 8.0E-06; 1.2E-05 |
|
0.800 | 1.000 | 7 | 2001 | 2013 | |||||||||
|
1.000 | 2 | 218661135 | missense variant | A/G | snv |
|
0.800 | 1.000 | 7 | 2001 | 2013 | ||||||||||
|
1.000 | 2 | 218661204 | missense variant | C/G;T | snv | 1.6E-04 | 4.9E-05 |
|
0.700 | 1.000 | 7 | 2001 | 2013 | ||||||||
|
2 | 218662571 | frameshift variant | CT/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2001 | 2009 | ||||||||||
|
2 | 218661192 | missense variant | C/A;T | snv | 4.0E-06; 6.8E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2001 | 2009 | |||||||||
|
1.000 | 2 | 218661896 | stop gained | C/T | snv | 4.0E-06 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 2 | 218661470 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 2 | 218661845 | missense variant | C/T | snv | 1.2E-05 | 7.7E-05 |
|
0.800 | 1.000 | 7 | 2001 | 2013 | |||||||
|
0.925 | 0.040 | 2 | 218661845 | missense variant | C/T | snv | 1.2E-05 | 7.7E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 2 | 218661848 | missense variant | C/T | snv | 1.8E-04 | 1.0E-04 |
|
0.800 | 1.000 | 7 | 2001 | 2013 | |||||||
|
0.882 | 0.200 | 2 | 218661848 | missense variant | C/T | snv | 1.8E-04 | 1.0E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2007 | 2013 | ||||||
|
0.925 | 0.200 | 2 | 218661090 | missense variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2007 | 2013 | ||||||||
|
1.000 | 0.200 | 2 | 218662910 | missense variant | G/A | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2007 | 2013 | |||||||
|
1.000 | 0.200 | 2 | 218662897 | missense variant | C/A;G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2007 | 2013 | |||||||
|
1.000 | 0.200 | 2 | 218662894 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.800 | 1.000 | 2 | 2007 | 2013 | ||||||||
|
1.000 | 0.200 | 2 | 218661425 | missense variant | C/T | snv | 8.4E-05; 4.0E-06 | 4.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2007 | 2013 | ||||||
|
0.882 | 0.200 | 2 | 218661848 | missense variant | C/T | snv | 1.8E-04 | 1.0E-04 |
|
0.700 | 0 |