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: 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: 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: 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: 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: rs2076740
rs2076740
0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease
Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2256366
rs2256366
1.000 0.120 8 133044857 intron variant G/A snv 0.14
CUI: C0018213
Disease: Graves Disease
Graves Disease
Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2687836
rs2687836
1.000 0.120 8 133050021 intron variant A/G snv 0.23 0.15
CUI: C0018213
Disease: Graves Disease
Graves Disease
Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2958692
rs2958692
1.000 0.120 8 133122429 intron variant C/T snv 0.96
CUI: C0018213
Disease: Graves Disease
Graves Disease
Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs853326
rs853326
0.882 0.120 8 132897729 missense variant A/G 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 2008 2008