THADA, THADA armadillo repeat containing, 63892

N. diseases: 47; N. variants: 49
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: rs78487399
rs78487399 		2 43582208 intron variant G/C snv 6.2E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs10495903
rs10495903 		1.000 0.040 2 43579779 intron variant C/T snv 0.13
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 3 2010 2017
dbSNP: rs10495903
rs10495903 		1.000 0.040 2 43579779 intron variant C/T snv 0.13
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 2 2012 2017
dbSNP: rs6740322
rs6740322 		1.000 0.040 2 43334790 intron variant A/C snv 0.20
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7590268
rs7590268 		1.000 0.080 2 43312986 intron variant T/G snv 0.22
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 2010 2012
dbSNP: rs10203174
rs10203174 		1.000 0.080 2 43462891 intron variant C/T snv 0.17
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs11694173
rs11694173 		0.827 0.080 2 43363760 intron variant G/A snv 0.14
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11694173
rs11694173 		0.827 0.080 2 43363760 intron variant G/A snv 0.14
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2016 2016
dbSNP: rs11694173
rs11694173 		0.827 0.080 2 43363760 intron variant G/A snv 0.14
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11694173
rs11694173 		0.827 0.080 2 43363760 intron variant G/A snv 0.14
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11694173
rs11694173 		0.827 0.080 2 43363760 intron variant G/A snv 0.14
CUI: C0029489
Disease: Other alopecia
Other alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11694173
rs11694173 		0.827 0.080 2 43363760 intron variant G/A snv 0.14
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11694173
rs11694173 		0.827 0.080 2 43363760 intron variant G/A snv 0.14
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs11899863
rs11899863 		1.000 0.080 2 43391680 intron variant C/T snv 8.5E-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 2012 2012
dbSNP: rs13035011
rs13035011 		1.000 0.080 2 43316978 intron variant C/T snv 0.20
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13405158
rs13405158 		1.000 0.080 2 43478147 intron variant T/C snv 0.17
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 2012 2012
dbSNP: rs13414381
rs13414381 		1.000 0.080 2 43340079 intron variant T/C snv 0.18
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: rs17334919
rs17334919 		1.000 0.080 2 43480246 intron variant C/T snv 7.0E-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 2018 2018
dbSNP: rs35720761
rs35720761 		1.000 0.080 2 43292838 missense variant C/A;G;T snv 2.9E-05; 9.9E-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 2018 2018
dbSNP: rs6729902
rs6729902 		1.000 0.080 2 43349829 intron variant C/T snv 0.20
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6732426
rs6732426 		1.000 0.080 2 43360365 intron variant C/T snv 0.54
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6743071
rs6743071 		1.000 0.080 2 43359148 intron variant T/C;G snv
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 2018 2018
dbSNP: rs12468394
rs12468394 		1.000 0.120 2 43334022 intron variant C/A snv 0.48
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs7563201
rs7563201 		1.000 0.120 2 43334641 intron variant G/A snv 0.45
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2015 2018
dbSNP: rs10179648
rs10179648 		1.000 0.120 2 43580926 intron variant C/T snv 0.70
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2011 2011