KANSL1, KAT8 regulatory NSL complex subunit 1, 284058
N. diseases: 140; N. variants: 332
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 17 | 46110126 | intron variant | A/G | snv | 0.14 |
|
Nervous System Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.200 | 17 | 46171102 | stop gained | G/A;C | snv | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2012 | 2016 | ||||||||
|
1.000 | 17 | 46170875 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 5 | 2012 | 2016 | ||||||||||
|
1.000 | 17 | 46170875 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 5 | 2012 | 2016 | |||||||||
|
1.000 | 0.040 | 17 | 46215654 | intron variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.925 | 0.120 | 17 | 46172742 | intron variant | T/C;G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.925 | 0.120 | 17 | 46169798 | intron variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
0.925 | 0.080 | 17 | 46111701 | intron variant | A/G | snv | 0.39 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2012 | |||||||
|
17 | 46134944 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 46040031 | non coding transcript exon variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 46042270 | non coding transcript exon variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 46117369 | intron variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 46129280 | intron variant | C/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 46130521 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 17 | 46032403 | non coding transcript exon variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 17 | 46032403 | non coding transcript exon variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
17 | 46057993 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 17 | 46038203 | non coding transcript exon variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 17 | 46038203 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 46071931 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
17 | 46128713 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 46128473 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 46121924 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
17 | 46114117 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 46053730 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |