LMBR1, limb development membrane protein 1, 64327
N. diseases: 98; N. variants: 11
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 | 0.120 | 7 | 156791474 | intron variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 156791771 | intron variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 156791571 | intron variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 156791547 | intron variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 156791137 | intron variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 156791255 | intron variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 156791581 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 156791480 | intron variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 156791579 | intron variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 156791542 | intron variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.700 | 0 |