TG, thyroglobulin, 7038

N. diseases: 240; N. variants: 43
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: rs1133076
rs1133076 		0.925 0.080 8 133113438 missense variant G/A snv 0.48 0.56
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1133076
rs1133076 		0.925 0.080 8 133113438 missense variant G/A snv 0.48 0.56
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1237798930
rs1237798930 		1.000 0.040 8 132882967 missense variant G/C snv 8.0E-06
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1308479098
rs1308479098 		0.925 0.120 8 132887384 missense variant G/A snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1308479098
rs1308479098 		0.925 0.120 8 132887384 missense variant G/A snv
CUI: C1998045
Disease: Subclinical hyperthyroidism
Subclinical hyperthyroidism 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs145475805
rs145475805 		0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs145475805
rs145475805 		0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs145475805
rs145475805 		0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs145475805
rs145475805 		0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs180223
rs180223 		0.925 0.120 8 132888007 missense variant T/A;C;G snv 8.0E-06; 4.0E-06; 0.58
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs180223
rs180223 		0.925 0.120 8 132888007 missense variant T/A;C;G snv 8.0E-06; 4.0E-06; 0.58
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs201414183
rs201414183 		8 132869780 synonymous variant C/T snv 1.1E-04 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2069550
rs2069550 		0.925 0.120 8 132888141 synonymous variant T/C snv 0.58 0.60
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2019 2019
dbSNP: rs2069550
rs2069550 		0.925 0.120 8 132888141 synonymous variant T/C snv 0.58 0.60
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2069566
rs2069566 		0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0271791
Disease: Severe hypothyroidism
Severe hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2069566
rs2069566 		0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2069566
rs2069566 		0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2076738
rs2076738 		0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2076738
rs2076738 		0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs2076738
rs2076738 		0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs2076739
rs2076739 		0.827 0.200 8 132971804 missense variant T/A snv
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs2076739
rs2076739 		0.827 0.200 8 132971804 missense variant T/A snv
CUI: C0349476
Disease: Congenital goiter
Congenital goiter 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs2076739
rs2076739 		0.827 0.200 8 132971804 missense variant T/A snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2076740
rs2076740 		0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2076740
rs2076740 		0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012