SLC39A4, solute carrier family 39 member 4, 55630
N. diseases: 87; N. variants: 12
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 | 8 | 144416001 | missense variant | G/A;T | snv | 9.9E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 6 | 2002 | 2012 | |||||||
|
1.000 | 0.080 | 8 | 144415295 | missense variant | G/A | snv | 1.3E-04 | 1.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2002 | 2012 | ||||||
|
1.000 | 0.080 | 8 | 144413288 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2002 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 144414291 | missense variant | C/T | snv | 2.1E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2002 | 2012 | ||||||
|
1.000 | 0.080 | 8 | 144415966 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2002 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 144414422 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2002 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 144414792 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2002 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 144414775 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2002 | 2004 | |||||||
|
1.000 | 0.080 | 8 | 144415027 | missense variant | G/A | snv | 3.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 8 | 144414297 | missense variant | C/G | snv | 0.76 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 8 | 144413980 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 8 | 144413980 | frameshift variant | A/- | del | 4.2E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |