GBE1, 1,4-alpha-glucan branching enzyme 1, 2632
N. diseases: 11; N. variants: 25
Source: CLINVAR ×
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 | 3 | 81648854 | splice donor variant | A/G | snv | 8.9E-04 | 7.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1998 | 2016 | ||||||
|
0.851 | 0.120 | 3 | 81642787 | missense variant | T/C;G | snv | 4.5E-04; 3.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 1996 | 2015 | |||||||
|
0.925 | 0.080 | 3 | 81535220 | stop gained | G/A;C | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2004 | 2007 | |||||||
|
0.925 | 0.080 | 3 | 81705469 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2003 | 2012 | ||||||||
|
0.851 | 0.120 | 3 | 81577999 | missense variant | C/T | snv | 3.3E-05 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2000 | 2014 | ||||||
|
0.925 | 0.080 | 3 | 81646403 | missense variant | A/T | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 3 | 81577973 | stop gained | G/A;C | snv | 3.7E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 3 | 81578000 | missense variant | G/A | snv | 3.7E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 |