WDHD1, WD repeat and HMG-box DNA binding protein 1, 11169
N. diseases: 161; N. variants: 29
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 55021516 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
14 | 55026690 | intron variant | T/A;C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 55026502 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
14 | 55008696 | missense variant | T/C | snv |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||||
|
14 | 55007880 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
14 | 54942366 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
14 | 54959829 | intron variant | C/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 55003199 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 55004145 | intron variant | G/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54955193 | intron variant | T/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54965373 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54986041 | intron variant | C/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54996151 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 55005169 | non coding transcript exon variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54973350 | intron variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54942352 | intron variant | T/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54946151 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 54958849 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |