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 | 0.120 | 21 | 44289270 | non coding transcript exon variant | G/A | snv | 0.19 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.860 | 0.833 | 6 | 2011 | 2019 | |||||||
|
1.000 | 0.080 | 21 | 44286678 | missense variant | A/G | snv | 4.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.810 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 21 | 44297705 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 25 | 1997 | 2017 | ||||||
|
1.000 | 0.080 | 21 | 44286671 | missense variant | A/G | snv |
|
Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 20 | 1997 | 2016 | ||||||||
|
1.000 | 0.080 | 21 | 44291147 | missense variant | G/A | snv |
|
Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 20 | 1997 | 2016 | ||||||||
|
1.000 | 0.080 | 21 | 44286656 | missense variant | T/A;C | snv | 8.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 10 | 1991 | 2016 | |||||||
|
1.000 | 0.080 | 21 | 44286068 | missense variant | C/T | snv | 7.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 6 | 2002 | 2012 | |||||||
|
0.807 | 0.200 | 21 | 44289773 | stop gained | C/A;T | snv | 7.5E-04 |
|
Immune System Diseases; Endocrine System Diseases | 0.760 | 1.000 | 14 | 1997 | 2018 | |||||||
|
0.827 | 0.080 | 21 | 44289686 | missense variant | G/A;T | snv | 4.0E-05 |
|
Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 20 | 1997 | 2016 | |||||||
|
0.925 | 0.200 | 21 | 44287085 | stop gained | C/G;T | snv | 4.5E-05; 2.5E-05 |
|
Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 5 | 1998 | 2012 | |||||||
|
0.925 | 0.160 | 21 | 44286092 | missense variant | T/C | snv |
|
Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 21 | 44287133 | missense variant | G/A | snv | 7.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 21 | 44291116 | missense variant | G/A | snv | 1.0E-03 | 9.2E-04 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 20 | 1997 | 2016 | ||||||
|
0.925 | 0.080 | 21 | 44291180 | frameshift variant | CTGTCCCCTCCGC/- | delins |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 10 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 21 | 44286698 | missense variant | C/T | snv | 2.1E-05 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 7 | 2008 | 2017 | |||||||
|
1.000 | 0.080 | 21 | 44297727 | stop lost | A/T | snv | 8.0E-06 | 7.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 1998 | 2008 | ||||||
|
1.000 | 0.080 | 21 | 44287135 | splice donor variant | T/C | snv | 1.2E-05 | 7.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 1998 | 2006 | ||||||
|
1.000 | 0.080 | 21 | 44293141 | frameshift variant | -/C | delins |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2000 | 2017 | ||||||||
|
1.000 | 0.080 | 21 | 44286007 | start lost | A/G;T | snv | 7.8E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2006 | 2017 | |||||||
|
1.000 | 0.080 | 21 | 44293089 | frameshift variant | C/- | delins |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2000 | 2015 | ||||||||
|
1.000 | 0.080 | 21 | 44287570 | stop gained | C/T | snv |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 1999 | 2000 | ||||||||
|
1.000 | 0.080 | 21 | 44289803 | splice donor variant | G/A;C;T | snv | 2.8E-05; 8.1E-06; 4.0E-06; 4.0E-06 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||||
|
1.000 | 0.080 | 21 | 44288460 | splice donor variant | T/C | snv |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2001 | 2015 | ||||||||
|
1.000 | 0.080 | 21 | 44291146 | frameshift variant | T/- | del |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||
|
1.000 | 0.080 | 21 | 44288459 | splice donor variant | G/T | snv | 9.6E-05 | 4.2E-05 |
|
Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2001 | 2015 |