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 | 13 | 48411837 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 13 | 48411961 | stop gained | G/A | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 13 | 48411862 | missense variant | T/A;C | snv | 3.2E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 13 | 48412050 | frameshift variant | TT/- | delins |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 13 | 48411859 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.040 | 13 | 48412236 | missense variant | T/A;C | snv |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 13 | 48411862 | missense variant | T/A;C | snv | 3.2E-05; 8.0E-06 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 13 | 48412896 | 5 prime UTR variant | A/G | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 13 | 48412896 | 5 prime UTR variant | A/G | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 13 | 48397800 | intron variant | G/A;T | snv |
|
Neoplasms; Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48397800 | intron variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 13 | 48411988 | missense variant | C/T | snv | 8.6E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2008 | 2014 | ||||||
|
0.925 | 0.080 | 13 | 48423557 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 13 | 48423557 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2006 |