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: rs12101261
rs12101261
TSHR
1.000 0.120 14 80984885 intron variant C/T snv 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.810 1.000 2 2011 2014
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
1.000 0.120 14 81092547 missense variant C/A;G;T snv 4.0E-06; 1.4E-04
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 		0.800 1.000 12 1995 2015
dbSNP: rs2300519
rs2300519
TSHR
1.000 0.120 14 80992418 3 prime UTR variant T/A snv 0.41
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.800 1.000 1 2012 2012
dbSNP: rs179247
rs179247
TSHR
0.882 0.160 14 80966202 intron variant A/G snv 0.40
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.770 1.000 8 2009 2017
dbSNP: rs189261858
rs189261858
TSHR ; LOC101928462
0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.740 1.000 17 2001 2017
dbSNP: rs189261858
rs189261858
TSHR ; LOC101928462
0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 		0.710 1.000 10 2001 2016
dbSNP: rs17111394
rs17111394
TSHR ; LOC101928462
1.000 0.120 14 81056784 intron variant T/C snv 0.13
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.710 1.000 2 2011 2019
dbSNP: rs2284720
rs2284720
TSHR
1.000 0.120 14 80976823 intron variant A/G snv 0.18
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.710 1.000 2 2011 2013
dbSNP: rs2284722
rs2284722
TSHR
1.000 0.120 14 80978023 intron variant G/A snv 0.27
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.710 1.000 2 2011 2019
dbSNP: rs2300525
rs2300525
TSHR
1.000 0.120 14 81031049 intron variant T/C snv 0.24
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.710 1.000 2 2011 2019
dbSNP: rs3783949
rs3783949
TSHR ; BHLHB9P1
1.000 0.120 14 80982038 non coding transcript exon variant T/G snv 0.48
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.710 1.000 2 2011 2014
dbSNP: rs4903964
rs4903964
TSHR
1.000 0.120 14 81002610 intron variant G/A;C snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.710 1.000 2 2011 2019
dbSNP: rs121908864
rs121908864
TSHR ; LOC101928462
0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.710 1.000 1 2014 2014
dbSNP: rs121908877
rs121908877
TSHR ; LOC101928462
0.925 0.040 14 81143945 missense variant G/A;T snv 4.0E-06
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.710 1.000 1 1997 1997
dbSNP: rs121908872
rs121908872
TSHR ; LOC101928462
1.000 0.120 14 81143715 missense variant G/A;T snv 3.2E-05; 8.0E-06
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 		0.700 1.000 5 1997 2016
dbSNP: rs121908866
rs121908866
TSHR ; LOC101928462
0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 		0.700 1.000 4 1996 2004
dbSNP: rs10145099
rs10145099
TSHR
1.000 0.120 14 80990350 intron variant C/T snv 0.35
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.700 1.000 1 2011 2011
dbSNP: rs17111396
rs17111396
TSHR ; LOC101928462
14 81057710 intron variant T/A;C snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2011 2011
dbSNP: rs17111530
rs17111530
TSHR ; LOC101928462
1.000 0.040 14 81132568 intron variant T/C snv 0.16
CUI: C1456145
Disease: Dental caries of smooth surface
Dental caries of smooth surface 		0.700 1.000 1 2014 2014
dbSNP: rs17545038
rs17545038
TSHR
1.000 0.120 14 80991228 intron variant T/C snv 0.20
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.700 1.000 1 2011 2011
dbSNP: rs179249
rs179249
TSHR
1.000 0.120 14 80968855 intron variant C/T snv 0.59
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.700 1.000 1 2011 2011
dbSNP: rs2288493
rs2288493
TSHR ; LOC101928462
1.000 0.040 14 81145262 3 prime UTR variant C/T snv 0.15
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs56885347
rs56885347
TSHR
1.000 0.120 14 80992418 3 prime UTR variant -/AAA delins
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.700 1.000 1 2012 2012
dbSNP: rs786204790
rs786204790
TSHR ; LOC101928462
1.000 0.120 14 81092608 splice donor variant TG/- delins 1.4E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 1.000 1 2013 2013
dbSNP: rs8022600
rs8022600
TSHR ; CEP128
1.000 0.120 14 80955079 5 prime UTR variant G/T snv 0.50
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.700 1.000 1 2011 2011