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: rs12478601
rs12478601 		0.851 0.200 2 43494369 intron variant C/T snv 0.61
CUI: C0003128
Disease: Anovulation
Anovulation 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12478601
rs12478601 		0.851 0.200 2 43494369 intron variant C/T snv 0.61
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12478601
rs12478601 		0.851 0.200 2 43494369 intron variant C/T snv 0.61
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12478601
rs12478601 		0.851 0.200 2 43494369 intron variant C/T snv 0.61
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13429458
rs13429458 		0.827 0.200 2 43411699 intron variant A/C snv 0.14
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13429458
rs13429458 		0.827 0.200 2 43411699 intron variant A/C snv 0.14
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs13429458
rs13429458 		0.827 0.200 2 43411699 intron variant A/C snv 0.14
CUI: C0003128
Disease: Anovulation
Anovulation 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13429458
rs13429458 		0.827 0.200 2 43411699 intron variant A/C snv 0.14
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13429458
rs13429458 		0.827 0.200 2 43411699 intron variant A/C snv 0.14
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7578597
rs7578597 		0.807 0.240 2 43505684 missense variant T/C snv 9.9E-02 0.14
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2011 2011
dbSNP: rs7578597
rs7578597 		0.807 0.240 2 43505684 missense variant T/C snv 9.9E-02 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs7578597
rs7578597 		0.807 0.240 2 43505684 missense variant T/C snv 9.9E-02 0.14
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7578597
rs7578597 		0.807 0.240 2 43505684 missense variant T/C snv 9.9E-02 0.14
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2011 2013
dbSNP: rs7578597
rs7578597 		0.807 0.240 2 43505684 missense variant T/C snv 9.9E-02 0.14
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2013
dbSNP: rs113542380
rs113542380 		2 43237679 intron variant G/A snv 4.7E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 3 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
dbSNP: rs1038822
rs1038822 		1.000 0.120 2 43511034 intron variant T/A;C snv
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
dbSNP: rs113542380
rs113542380 		2 43237679 intron variant G/A snv 4.7E-02
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs113542380
rs113542380 		2 43237679 intron variant G/A snv 4.7E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs113542380
rs113542380 		2 43237679 intron variant G/A snv 4.7E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs113542380
rs113542380 		2 43237679 intron variant G/A snv 4.7E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
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