SPINK5, serine peptidase inhibitor Kazal type 5, 11005
N. diseases: 93; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 5 | 148101392 | missense variant | A/G | snv | 0.52 | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.060 | 1.000 | 6 | 2004 | 2012 | ||||||
|
0.882 | 0.160 | 5 | 148100464 | missense variant | G/A | snv | 0.52 | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2005 | 2012 | ||||||
|
0.925 | 0.120 | 5 | 148100517 | missense variant | G/A | snv | 0.20 | 0.25 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||||
|
0.882 | 0.120 | 5 | 148120328 | missense variant | G/A;C;T | snv | 0.13 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.925 | 0.120 | 5 | 148114596 | intron variant | A/C | snv | 3.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 5 | 148072009 | intron variant | A/G | snv | 3.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 5 | 148112898 | synonymous variant | T/C | snv | 4.5E-02 | 3.5E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.120 | 5 | 148086438 | missense variant | G/A | snv | 4.6E-02 | 3.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.120 | 5 | 148091116 | intron variant | A/T | snv | 4.5E-02; 4.2E-06 | 3.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |