SERPING1, serpin family G member 1, 710
N. diseases: 207; N. variants: 43
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 11 | 57614475 | missense variant | G/A;C;T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 17 | 1988 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57600377 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 17 | 1988 | 2018 | ||||||||
|
0.882 | 0.160 | 11 | 57614474 | missense variant | C/A;T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 17 | 1988 | 2018 | ||||||||
|
0.925 | 0.160 | 11 | 57614450 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
0.925 | 0.160 | 11 | 57614439 | missense variant | T/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
0.925 | 0.120 | 11 | 57614472 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57600288 | missense variant | A/G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57600336 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57606013 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57606019 | missense variant | T/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57606413 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614367 | missense variant | T/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614400 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614418 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614496 | missense variant | T/G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57614568 | missense variant | A/G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 16 | 1988 | 2014 | ||||||||
|
1.000 | 0.120 | 11 | 57606195 | missense variant | A/C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57606471 | stop gained | C/G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 11 | 57614428 | frameshift variant | GA/- | delins |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57598271 | start lost | A/C;G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57602069 | frameshift variant | ATCC/- | delins |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57602158 | stop gained | TC/AA | mnv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57606530 | stop gained | C/T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57611793 | frameshift variant | A/- | del |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 57614498 | stop gained | C/T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 |