ETFA, electron transfer flavoprotein subunit alpha, 2108
N. diseases: 195; N. variants: 8
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 | 15 | 76274431 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 4 | 1992 | 2016 | ||||||
|
1.000 | 0.120 | 15 | 76254592 | intron variant | G/A;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 15 | 76286421 | missense variant | G/A | snv | 7.4E-02 | 6.4E-02 |
|
Neoplasms | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||||
|
0.882 | 0.040 | 15 | 76286421 | missense variant | G/A | snv | 7.4E-02 | 6.4E-02 |
|
Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 15 | 76246118 | intron variant | G/C | snv | 6.3E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 15 | 76246118 | intron variant | G/C | snv | 6.3E-02 |
|
Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 15 | 76286463 | missense variant | A/C | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 15 | 76286463 | missense variant | A/C | snv | 2.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 15 | 76274431 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 15 | 76292436 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 15 | 76292436 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 15 | 76286437 | frameshift variant | AC/- | delins | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 15 | 76286421 | missense variant | G/A | snv | 7.4E-02 | 6.4E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.040 | 15 | 76286421 | missense variant | G/A | snv | 7.4E-02 | 6.4E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
15 | 76286465 | synonymous variant | T/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 |