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 | 0.040 | 19 | 38580094 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 24 | 1991 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 38499706 | missense variant | G/A;T | snv | 5.0E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 24 | 1991 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 38499984 | missense variant | G/A;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 24 | 1991 | 2017 | |||||||
|
0.882 | 0.080 | 19 | 38448712 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
0.925 | 0.040 | 19 | 38500655 | missense variant | G/A;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | |||||||
|
1.000 | 0.080 | 19 | 38519292 | missense variant | G/A;T | snv | 8.8E-04; 1.0E-04 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | |||||||
|
1.000 | 0.080 | 19 | 38496278 | missense variant | C/G;T | snv | 4.1E-04 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 38433867 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
0.925 | 0.120 | 19 | 38440829 | missense variant | C/T | snv | 4.1E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | |||||||
|
0.925 | 0.120 | 19 | 38440829 | missense variant | C/T | snv | 4.1E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | |||||||
|
0.925 | 0.040 | 19 | 38499655 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
1.000 | 0.080 | 19 | 38499954 | missense variant | G/A;C;T | snv | 3.2E-05; 4.0E-06; 3.2E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 38500003 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 38500899 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
0.925 | 0.120 | 19 | 38534775 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 38543405 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 38565034 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 38573229 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
0.925 | 0.040 | 19 | 38577955 | missense variant | G/A | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | |||||||
|
1.000 | 0.080 | 19 | 38577973 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | ||||||||
|
0.882 | 0.120 | 19 | 38499997 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 | ||||||||
|
0.882 | 0.120 | 19 | 38499997 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.740 | 1.000 | 20 | 1993 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 38466143 | missense variant | C/T | snv | 4.1E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | |||||||
|
1.000 | 0.080 | 19 | 38507783 | missense variant | T/C | snv | 8.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 20 | 1993 | 2017 | |||||||
|
1.000 | 0.040 | 19 | 38525377 | missense variant | G/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 20 | 1991 | 2015 |