MYD88, MYD88 innate immune signal transduction adaptor, 4615
N. diseases: 480; N. variants: 9
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 | 0.080 | 3 | 38140510 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.800 | 1.000 | 4 | 2008 | 2014 | |||||||
|
1.000 | 0.080 | 3 | 38138978 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.800 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
1.000 | 0.080 | 3 | 38138671 | frameshift variant | GCTGAGGCTCCAGGACCGC/- | delins | 3.6E-04 | 3.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 3 | 38138853 | inframe deletion | GAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.100 | 1.000 | 53 | 2012 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.895 | 19 | 2013 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.944 | 18 | 2012 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.917 | 12 | 2013 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.080 | 1.000 | 8 | 2013 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms | 0.080 | 1.000 | 8 | 2012 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.070 | 1.000 | 7 | 2014 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.070 | 1.000 | 7 | 2013 | 2018 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.070 | 1.000 | 7 | 2013 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.070 | 1.000 | 7 | 2014 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Immune System Diseases; Hemic and Lymphatic Diseases | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Immune System Diseases; Hemic and Lymphatic Diseases | 0.060 | 0.833 | 6 | 2013 | 2015 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Immune System Diseases; Hemic and Lymphatic Diseases | 0.050 | 0.800 | 5 | 2012 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.050 | 1.000 | 5 | 2012 | 2018 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases | 0.050 | 1.000 | 5 | 2018 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Immune System Diseases; Hemic and Lymphatic Diseases | 0.040 | 1.000 | 4 | 2012 | 2017 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 0.667 | 3 | 2013 | 2017 |