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: rs2294025
rs2294025 		1.000 0.120 8 133133268 intron variant G/A snv 0.49
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.810 1.000 2 2013 2019
dbSNP: rs121912649
rs121912649 		1.000 0.040 8 132967797 missense variant G/A snv
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.800 1.000 6 1999 2016
dbSNP: rs121912650
rs121912650 		1.000 0.040 8 133022121 missense variant G/A snv 4.0E-06
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.800 1.000 6 1999 2016
dbSNP: rs137854434
rs137854434 		1.000 0.040 8 133029907 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.800 1.000 6 1999 2016
dbSNP: rs2076739
rs2076739 		0.827 0.200 8 132971804 missense variant T/A snv
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.800 1.000 6 1999 2016
dbSNP: rs853308
rs853308 		1.000 0.040 8 132917672 intron variant C/T snv 0.41
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.800 1.000 1 2012 2012
dbSNP: rs121912648
rs121912648 		0.925 0.040 8 132882609 stop gained C/T snv 3.6E-04 4.0E-04
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.700 1.000 6 1999 2013
dbSNP: rs2076738
rs2076738 		0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.700 1.000 6 1999 2016
dbSNP: rs370991693
rs370991693 		0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.700 1.000 6 1999 2016
dbSNP: rs11786982
rs11786982 		8 133120266 intron variant G/A snv 0.23
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121912648
rs121912648 		0.925 0.040 8 132882609 stop gained C/T snv 3.6E-04 4.0E-04
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1412480668
rs1412480668 		1.000 8 132886447 splice acceptor variant G/C snv 4.0E-06
CUI: C1842444
Disease: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (finding)
AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (finding) 		0.700 1.000 1 2018 2018
dbSNP: rs1810396
rs1810396 		1.000 0.040 8 132906524 intron variant A/G snv 0.76
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2687812
rs2687812 		1.000 0.040 8 132918810 intron variant A/T snv 0.41
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2739156
rs2739156 		8 133074620 intron variant T/A snv 0.24
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4301434
rs4301434 		1.000 0.120 8 133075205 intron variant A/G snv 0.43
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs71526274
rs71526274 		8 133091709 intron variant C/T snv 0.41
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs774274702
rs774274702 		1.000 0.040 8 132873226 splice region variant G/A snv 2.4E-05 1.4E-05
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs80018415
rs80018415 		8 132904554 intron variant G/A snv 5.4E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs80018415
rs80018415 		8 132904554 intron variant G/A snv 5.4E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs853316
rs853316 		8 132894539 intron variant G/A snv 0.43
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs865488
rs865488 		0.882 8 132926377 intron variant C/T snv 0.67
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs865488
rs865488 		0.882 8 132926377 intron variant C/T snv 0.67
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs865488
rs865488 		0.882 8 132926377 intron variant C/T snv 0.67
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs865488
rs865488 		0.882 8 132926377 intron variant C/T snv 0.67
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019