ELANE, elastase, neutrophil expressed, 1991
N. diseases: 346; N. variants: 33
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 | 19 | 852978 | missense variant | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 853288 | missense variant | T/C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 19 | 853395 | missense variant | A/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 852965 | missense variant | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 19 | 856019 | missense variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
0.925 | 0.040 | 19 | 852990 | missense variant | C/A;G;T | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 15 | 1999 | 2016 | ||||||||
|
0.925 | 0.040 | 19 | 855613 | missense variant | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 853338 | missense variant | G/A;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
0.882 | 0.080 | 19 | 855574 | stop gained | C/A;T | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 14 | 2000 | 2013 | ||||||||
|
0.925 | 0.080 | 19 | 856000 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 852882 | missense variant | C/A;T | snv | 4.5E-06; 4.5E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | |||||||
|
0.925 | 0.040 | 19 | 855795 | splice donor variant | G/A;C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1999 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 855974 | missense variant | C/G | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 855967 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 19 | 855588 | missense variant | G/A;T | snv | 1.3E-05 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | |||||||
|
1.000 | 0.040 | 19 | 855693 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||
|
0.925 | 0.080 | 19 | 853019 | missense variant | T/C | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
0.827 | 0.120 | 19 | 853022 | missense variant | G/A;C | snv | 1.2E-05 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 19 | 855649 | missense variant | G/A;T | snv |
|
Hemic and Lymphatic Diseases | 0.800 | 1.000 | 16 | 2000 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 853345 | missense variant | G/A;T | snv | 4.2E-06 |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 19 | 855758 | stop gained | C/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 19 | 853020 | missense variant | G/T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 852948 | missense variant | T/C | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
0.925 | 0.040 | 19 | 852945 | missense variant | C/A;T | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
0.925 | 0.040 | 19 | 855799 | splice region variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 1999 | 2013 |