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: rs80356611
rs80356611
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 1 2006 2006
dbSNP: rs193922565
rs193922565
1.000 0.120 11 17388087 missense variant A/G snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356624
rs80356624
0.752 0.240 11 17387490 missense variant C/A;T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2006 2009
dbSNP: rs193929337
rs193929337
0.827 0.160 11 17387937 missense variant T/C snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs587783673
rs587783673
1.000 0.120 11 17387407 missense variant C/T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2017 2018
dbSNP: rs80356616
rs80356616
0.732 0.360 11 17387917 missense variant C/T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2006
dbSNP: rs193929355
rs193929355
0.882 0.120 11 17387128 missense variant C/T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs534808921
rs534808921
1.000 0.120 11 17387967 missense variant C/A snv 1.2E-05
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs80356615
rs80356615
0.851 0.240 11 17387934 missense variant C/T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80356618
rs80356618
0.807 0.200 11 17387595 missense variant C/A;T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs80356625
rs80356625
0.827 0.280 11 17387491 missense variant G/A snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016