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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.060 1.000 6 2009 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.060 1.000 6 2009 2019
dbSNP: rs965513
rs965513
PTCSC2
0.742 0.200 9 97793827 intron variant A/G;T snv
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.050 0.600 5 2014 2016
dbSNP: rs116909374
rs116909374 		0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.020 < 0.001 2 2016 2016
dbSNP: rs944289
rs944289 		0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.020 0.500 2 2014 2016
dbSNP: rs10136427
rs10136427
LOC105370572
0.925 14 75513546 intergenic variant C/T snv 0.21
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2015 2015
dbSNP: rs10741657
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2012 2012
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
0.763 0.280 12 57768302 intron variant G/C;T snv
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2012 2012
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2015 2015
dbSNP: rs1220597
rs1220597
SPATA13
0.925 13 24243875 intron variant C/T snv 0.51
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2014 2014
dbSNP: rs12794714
rs12794714
CYP2R1
0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2012 2012
dbSNP: rs13184587
rs13184587
ARSB
0.925 5 78910960 intron variant G/A;T snv
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2014 2014
dbSNP: rs1447295
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 < 0.001 1 2011 2011
dbSNP: rs16962916
rs16962916 		0.925 16 13806476 intergenic variant A/C;G snv
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2016 2016
dbSNP: rs17739370
rs17739370 		0.925 4 177374275 intergenic variant C/T snv 0.38
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2016 2016
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2016 2016
dbSNP: rs1799939
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2017 2017
dbSNP: rs1800860
rs1800860
RET
0.882 0.080 10 43111239 missense variant A/G snv 0.70 0.74
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2017 2017
dbSNP: rs2070593
rs2070593
GPX3
0.827 0.120 5 151028379 3 prime UTR variant G/A;T snv 0.20
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2009 2009
dbSNP: rs2248137
rs2248137
CYP24A1
0.827 0.160 20 54173204 intron variant C/G snv 0.49
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2012 2012
dbSNP: rs2296241
rs2296241
CYP24A1
0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2012 2012
dbSNP: rs2439302
rs2439302
NRG1
0.776 0.200 8 32574851 intron variant G/C snv 0.54
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 < 0.001 1 2016 2016
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2016 2016