NOTCH4, notch receptor 4, 4855
N. diseases: 150; N. variants: 58
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 | 0.200 | 6 | 32214982 | intron variant | G/A | snv | 0.15 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.807 | 0.320 | 6 | 32205216 | intron variant | C/T | snv | 0.11 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.882 | 0.240 | 6 | 32222251 | intron variant | A/G | snv | 0.91 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.752 | 0.280 | 6 | 32223562 | intron variant | C/T | snv | 0.11 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.925 | 0.160 | 6 | 32213405 | intron variant | G/A | snv | 0.14 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.200 | 6 | 32203906 | intron variant | T/C | snv | 0.48 | 0.46 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.120 | 6 | 32197667 | intron variant | A/G | snv | 0.13 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 6 | 32212654 | intron variant | A/T | snv | 7.0E-02 | 5.4E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.925 | 0.200 | 6 | 32224783 | upstream gene variant | G/A | snv | 4.9E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 6 | 32211717 | intron variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32211655 | intron variant | G/T | snv | 5.4E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32217828 | intron variant | G/A | snv | 5.4E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 6 | 32203298 | non coding transcript exon variant | A/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32209005 | intron variant | G/T | snv | 0.19 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32211661 | intron variant | G/A | snv | 0.11 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.320 | 6 | 32200994 | synonymous variant | G/T | snv | 9.7E-02 | 0.11 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 6 | 32218571 | intron variant | C/T | snv | 0.10 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32224659 | upstream gene variant | A/C;G;T | snv | 0.11 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32219246 | intron variant | A/G | snv | 0.40 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 32224840 | upstream gene variant | T/C | snv | 7.1E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.280 | 6 | 32220606 | missense variant | T/C | snv | 0.40 | 0.40 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.882 | 0.200 | 6 | 32225901 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 6 | 32198607 | intron variant | C/G;T | snv | 7.0E-02; 4.1E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.200 | 6 | 32221166 | missense variant | G/A | snv | 4.7E-03 | 1.4E-03 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.120 | 6 | 32225443 | upstream gene variant | A/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |