INPPL1, inositol polyphosphate phosphatase like 1, 3636
N. diseases: 133; N. variants: 16
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 72232757 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 72229677 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 72229677 | frameshift variant | AG/- | del | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 11 | 72228377 | frameshift variant | AGACC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 72229116 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 11 | 72233099 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 72233098 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 72230799 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 72233471 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 72234616 | splice donor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 72225071 | frameshift variant | GAGGAGCTGCTGGCCCGGGCGGGCCGCG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 72233696 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 |