Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIABETES MELLITUS, PERMANENT NEONATAL
|
108 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||
Developmental delay (disorder)
|
68 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2006 | 2006 | ||||||
Global developmental delay
|
553 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2006 | 2006 | ||||||
Diabetes
|
710 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.020 | 0.500 | 2 | 2006 | 2012 | ||||||
Diabetes Mellitus
|
824 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.020 | 0.500 | 2 | 2006 | 2012 | ||||||
Neonatal diabetes mellitus
|
33 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||||
Clumsiness - motor delay
|
2 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
DEND syndrome
|
8 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
5 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Diabetic Neuropathies
|
12 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Epilepsy
|
339 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
Epilepsy, Generalized
|
36 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Hyperglycemia
|
108 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Mental disorders
|
149 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Muscle Weakness
|
87 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Paresis
|
49 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Trichohepatoenteric Syndrome
|
28 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
|
9 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Neonatal insulin-dependent diabetes mellitus
|
6 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.700 | 0 |