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.
dbSNP: rs193929358
rs193929358
0.851 0.240 11 17387091 missense variant C/T snv
Developmental Delay, Epilepsy, and Neonatal Diabetes
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2007 2007
dbSNP: rs80356611
rs80356611
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06
Developmental Delay, Epilepsy, and Neonatal Diabetes
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs80356615
rs80356615
0.851 0.240 11 17387934 missense variant C/T snv
Developmental Delay, Epilepsy, and Neonatal Diabetes
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs80356616
rs80356616
0.732 0.360 11 17387917 missense variant C/T snv
Developmental Delay, Epilepsy, and Neonatal Diabetes
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011