NEUROG3, neurogenin 3, 50674

N. diseases: 49; N. variants: 8
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.
dbSNP: rs121917837
rs121917837 		1.000 0.120 10 69572725 missense variant G/T snv 1.6E-05 1.4E-05
CUI: C1835888
Disease: Diarrhea 4, Malabsorptive, Congenital
Diarrhea 4, Malabsorptive, Congenital 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2006 2006
dbSNP: rs121917838
rs121917838 		1.000 0.120 10 69572766 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1835888
Disease: Diarrhea 4, Malabsorptive, Congenital
Diarrhea 4, Malabsorptive, Congenital 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2006 2006
dbSNP: rs11592899
rs11592899 		10 69574027 upstream gene variant G/A snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs41277236
rs41277236 		1.000 0.080 10 69572545 missense variant C/T snv 3.7E-02 3.3E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1461650439
rs1461650439 		1.000 0.120 10 69572882 stop gained G/T snv 4.2E-06
CUI: C1835888
Disease: Diarrhea 4, Malabsorptive, Congenital
Diarrhea 4, Malabsorptive, Congenital 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs144643855
rs144643855 		1.000 0.040 10 69573087 intron variant TG/- del 0.23
CUI: C2938940
Disease: Post stroke depression
Post stroke depression 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3812704
rs3812704 		1.000 0.080 10 69574866 upstream gene variant C/T snv 5.8E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4536103
rs4536103 		1.000 0.080 10 69572448 missense variant A/G snv 0.56 0.55
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004