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: 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: 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: 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: rs121912646
rs121912646
1.000 0.040 8 132923397 stop gained C/G;T snv 4.0E-06; 8.4E-05
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0
dbSNP: rs121912647
rs121912647
1.000 0.040 8 132906786 missense variant T/C snv
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0
dbSNP: rs137854433
rs137854433
1.000 0.040 8 132898809 missense variant T/C snv
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0
dbSNP: rs142698837
rs142698837
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0
dbSNP: rs1554649344
rs1554649344
1.000 0.040 8 132869816 frameshift variant -/C delins
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0
dbSNP: rs199599591
rs199599591
1.000 0.040 8 132941493 stop gained C/A;T snv 1.0E-04; 2.0E-05
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0
dbSNP: rs2069566
rs2069566
0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0
dbSNP: rs898275076
rs898275076
0.925 0.120 8 133022135 missense variant G/A snv 7.0E-06
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3
Endocrine System Diseases 0.700 0