GLIS3, GLIS family zinc finger 3, 169792

N. diseases: 105; N. variants: 48
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: rs869320723
rs869320723 		1.000 0.160 9 3856143 frameshift variant -/G delins
CUI: C1857775
Disease: Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs879255609
rs879255609 		1.000 0.160 9 4118546 frameshift variant C/- delins
CUI: C1857775
Disease: Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs7875253
rs7875253 		1.000 0.080 9 4285707 non coding transcript exon variant C/A snv 0.73
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 2017 2017
dbSNP: rs6415788
rs6415788 		9 4118111 missense variant G/T snv 0.67 0.62
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs113754532
rs113754532 		1.000 0.080 9 4286344 missense variant T/C snv 2.5E-04 2.6E-04
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 2019 2019
dbSNP: rs140101069
rs140101069 		1.000 0.120 9 3828342 missense variant G/A snv 3.2E-04 8.4E-05
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs140101069
rs140101069 		1.000 0.120 9 3828342 missense variant G/A snv 3.2E-04 8.4E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1447956961
rs1447956961 		1.000 0.160 9 4286272 missense variant C/T snv 4.0E-06
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs6415788
rs6415788 		9 4118111 missense variant G/T snv 0.67 0.62
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs6415788
rs6415788 		9 4118111 missense variant G/T snv 0.67 0.62
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs6415788
rs6415788 		9 4118111 missense variant G/T snv 0.67 0.62
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs868197660
rs868197660 		1.000 0.160 9 4117797 missense variant G/A snv
CUI: C1857775
Disease: Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs879255608
rs879255608 		1.000 0.160 9 4117870 missense variant G/C snv
CUI: C1857775
Disease: Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs7034200
rs7034200 		1.000 0.080 9 4289050 intron variant C/A;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.750 1.000 6 2011 2019
dbSNP: rs7041847
rs7041847 		1.000 0.080 9 4287466 intron variant A/G snv 0.37
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.820 1.000 5 2011 2019
dbSNP: rs7034200
rs7034200 		1.000 0.080 9 4289050 intron variant C/A;G snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 3 2010 2015
dbSNP: rs736893
rs736893 		0.925 0.040 9 4217028 intron variant G/A;C snv
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		Eye Diseases 0.720 1.000 3 2016 2019
dbSNP: rs10758593
rs10758593 		0.827 0.240 9 4292083 intron variant G/A snv 0.45
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 0.500 2 2011 2017
dbSNP: rs10758593
rs10758593 		0.827 0.240 9 4292083 intron variant G/A snv 0.45
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2012 2014
dbSNP: rs10974438
rs10974438 		0.925 0.120 9 4291928 intron variant A/C snv 0.29
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2018 2019
dbSNP: rs1570204
rs1570204 		9 4216751 intron variant T/C snv 0.25
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs4237150
rs4237150 		9 4290085 intron variant G/A;C;T snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 2 2012 2015
dbSNP: rs6476827
rs6476827 		9 4220832 intron variant C/G snv 0.24
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs7020673
rs7020673 		0.882 0.200 9 4291747 intron variant C/A;G snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.810 0.500 2 2009 2017
dbSNP: rs736893
rs736893 		0.925 0.040 9 4217028 intron variant G/A;C snv
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		Eye Diseases 0.020 1.000 2 2018 2019