SLC22A11, solute carrier family 22 member 11, 55867
N. diseases: 7; 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 | 11 | 64566642 | non coding transcript exon variant | C/T | snv | 0.37 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 64563990 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 11 | 64564096 | intron variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 11 | 64565824 | non coding transcript exon variant | A/G | snv | 0.73 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 64555608 | upstream gene variant | C/T | snv | 0.43 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 64560238 | intron variant | T/C | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 64557597 | intron variant | G/C | snv | 0.17 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 64556648 | intron variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 11 | 64560372 | intron variant | A/G | snv | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 |