SLC22A12, solute carrier family 22 member 12, 116085
N. diseases: 43; N. variants: 35
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 11 | 64589600 | upstream gene variant | T/C | snv | 0.45 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.710 | 1.000 | 3 | 2010 | 2015 | |||||||
|
0.925 | 0.120 | 11 | 64593233 | intron variant | C/T | snv | 0.51 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
0.882 | 0.160 | 11 | 64591814 | synonymous variant | C/T | snv | 0.57 | 0.51 |
|
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 | 64591337 | 5 prime UTR variant | G/A | snv | 0.51 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.882 | 0.160 | 11 | 64596819 | intron variant | C/T | snv | 0.25 |
|
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 | 64590793 | 5 prime UTR variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.882 | 0.160 | 11 | 64598324 | intron variant | C/A | snv | 0.61 |
|
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 | 64590839 | 5 prime UTR variant | C/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 | 64591749 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |