TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Graves Disease ×
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: rs12101261
rs12101261 		1.000 0.120 14 80984885 intron variant C/T snv 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.810 1.000 2 2011 2014
dbSNP: rs2300519
rs2300519 		1.000 0.120 14 80992418 3 prime UTR variant T/A snv 0.41
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs179247
rs179247 		0.882 0.160 14 80966202 intron variant A/G snv 0.40
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.770 1.000 8 2009 2017
dbSNP: rs17111394
rs17111394 		1.000 0.120 14 81056784 intron variant T/C snv 0.13
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2019
dbSNP: rs2284720
rs2284720 		1.000 0.120 14 80976823 intron variant A/G snv 0.18
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2013
dbSNP: rs2284722
rs2284722 		1.000 0.120 14 80978023 intron variant G/A snv 0.27
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2019
dbSNP: rs2300525
rs2300525 		1.000 0.120 14 81031049 intron variant T/C snv 0.24
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2019
dbSNP: rs3783949
rs3783949 		1.000 0.120 14 80982038 non coding transcript exon variant T/G snv 0.48
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2014
dbSNP: rs4903964
rs4903964 		1.000 0.120 14 81002610 intron variant G/A;C snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2019
dbSNP: rs10145099
rs10145099 		1.000 0.120 14 80990350 intron variant C/T snv 0.35
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17545038
rs17545038 		1.000 0.120 14 80991228 intron variant T/C snv 0.20
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs179249
rs179249 		1.000 0.120 14 80968855 intron variant C/T snv 0.59
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs56885347
rs56885347 		1.000 0.120 14 80992418 3 prime UTR variant -/AAA delins
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs8022600
rs8022600 		1.000 0.120 14 80955079 5 prime UTR variant G/T snv 0.50
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2234919
rs2234919 		0.925 0.160 14 80955834 missense variant C/A;G snv 6.8E-02; 1.2E-05
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.050 0.600 5 1999 2003
dbSNP: rs12101255
rs12101255 		0.925 0.120 14 80984708 intron variant C/T snv 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.040 1.000 4 2009 2016
dbSNP: rs1991517
rs1991517 		0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.040 0.750 4 1999 2003
dbSNP: rs2268458
rs2268458 		0.925 0.120 14 80996551 intron variant T/C snv 0.20
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 2008 2016
dbSNP: rs121908864
rs121908864 		0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121908873
rs121908873 		0.790 0.160 14 81139828 missense variant G/A;T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12885526
rs12885526 		0.925 0.160 14 81108085 intron variant G/A snv 0.63
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs179243
rs179243 		1.000 0.120 14 80962220 intron variant T/C snv 0.57
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2239610
rs2239610 		1.000 0.120 14 80955913 non coding transcript exon variant G/C snv 0.21
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3783938
rs3783938 		0.925 0.120 14 81128036 intron variant C/T snv 0.13
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4411444
rs4411444 		0.925 0.120 14 80978764 intron variant A/G snv 0.43
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017