Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.040 0.750 4 1999 2003
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0154143
Disease: Toxic multinodular goiter
Toxic multinodular goiter 		0.020 1.000 2 1999 2016
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter 		0.020 1.000 2 2013 2016
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.020 1.000 2 2010 2010
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0018021
Disease: Goiter
Goiter 		0.010 1.000 1 2016 2016
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.010 < 0.001 1 2016 2016
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 1.000 1 2012 2012
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0342158
Disease: Hypothyroidism, Autoimmune
Hypothyroidism, Autoimmune 		0.010 1.000 1 2012 2012
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		0.010 1.000 1 1999 1999
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 1.000 1 2014 2014
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 < 0.001 1 2009 2009