SLC26A2, solute carrier family 26 member 2, 1836
N. diseases: 198; N. variants: 78
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 | 0.120 | 5 | 149980603 | inframe insertion | TGTTGT/-;TGT;TGTTGTTGT | delins | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 1996 | 2004 | |||||||
|
0.776 | 0.200 | 5 | 149980428 | missense variant | C/T | snv | 9.8E-04 | 1.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2004 | 2011 | ||||||
|
0.851 | 0.120 | 5 | 149978184 | stop gained | C/T | snv | 1.3E-04 | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 1996 | 2011 | ||||||
|
0.851 | 0.120 | 5 | 149981550 | missense variant | T/A | snv | 1.1E-04 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2003 | 2012 | ||||||
|
0.851 | 0.120 | 5 | 149981316 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 1996 | 1996 | ||||||||
|
1.000 | 0.080 | 5 | 149978101 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 1996 | 2001 | ||||||||
|
0.851 | 0.120 | 5 | 149960981 | splice donor variant | T/C | snv | 5.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1.000 | 0.120 | 5 | 149977707 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.851 | 0.120 | 5 | 149978135 | frameshift variant | TG/- | delins | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.851 | 0.120 | 5 | 149981300 | stop gained | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |