Source: BEFREE

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: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0028259
Disease: Nodule
Nodule 		0.020 0.500 2 2015 2018
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0028259
Disease: Nodule
Nodule 		0.020 0.500 2 2015 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.020 1.000 2 2010 2016
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0028259
Disease: Nodule
Nodule 		0.020 0.500 2 2015 2018
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0028259
Disease: Nodule
Nodule 		0.020 1.000 2 2010 2016
dbSNP: rs104894359
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2001 2001
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2017 2017
dbSNP: rs121908864
rs121908864
TSHR ; LOC101928462
0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2005 2005
dbSNP: rs121912532
rs121912532
LHCGR ; GTF2A1L ; STON1-GTF2A1L
0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2011 2011
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2014 2014
dbSNP: rs1363782162
rs1363782162
AR
X 67546155 missense variant G/A snv 5.5E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2001 2001
dbSNP: rs2069852
rs2069852 		0.925 0.080 7 22732641 downstream gene variant G/A;C snv
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2016 2016
dbSNP: rs28937584
rs28937584
TSHR ; LOC101928462
0.925 0.080 14 81143955 missense variant G/A;C snv 4.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2005 2005
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0028259
Disease: Nodule
Nodule 		0.010 < 0.001 1 2015 2015
dbSNP: rs375878504
rs375878504
HRAS ; LRRC56 ; LOC101059906
1.000 0.080 11 532741 synonymous variant G/A;C snv 8.1E-06 7.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2018 2018
dbSNP: rs386352319
rs386352319
KCNJ5
0.827 0.080 11 128911724 missense variant G/A;C snv
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2015 2015
dbSNP: rs750198847
rs750198847
TSHR ; LOC101928462
14 81143650 missense variant G/A snv 3.6E-05 4.2E-05
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2005 2005
dbSNP: rs764330550
rs764330550
TSHR ; LOC101928462
14 81143730 missense variant G/T snv 4.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2005 2005
dbSNP: rs765808222
rs765808222
FGB
4 154569614 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2017 2017