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: rs79658334
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.880 1.000 8 1996 2018
dbSNP: rs75234356
rs75234356
RET
0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.870 1.000 7 1993 2018
dbSNP: rs76262710
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.870 1.000 7 1993 2018
dbSNP: rs75030001
rs75030001
RET
0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 1.000 3 2012 2018
dbSNP: rs78014899
rs78014899
RET
0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 1.000 3 1996 2018
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 1.000 3 1993 2018
dbSNP: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.820 1.000 2 1993 2018
dbSNP: rs77724903
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.810 1.000 1 1993 2007
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.770 1.000 7 1996 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.740 1.000 4 1994 2018
dbSNP: rs75873440
rs75873440
RET
0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.730 1.000 3 2003 2008
dbSNP: rs77316810
rs77316810
RET
0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.730 1.000 3 1994 2018
dbSNP: rs77709286
rs77709286
RET
0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.710 1.000 1 1993 2004
dbSNP: rs377767397
rs377767397
RET
0.790 0.280 10 43113628 missense variant G/A;C;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.030 1.000 3 2001 2018
dbSNP: rs377767398
rs377767398
RET
0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.030 1.000 3 2001 2018
dbSNP: rs121913306
rs121913306
RET
0.851 0.120 10 43120119 missense variant AGC/TTT mnv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.020 1.000 2 1999 2017
dbSNP: rs377767429
rs377767429
RET
0.790 0.120 10 43120120 missense variant GC/TT mnv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.020 1.000 2 1999 2017
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1206969193
rs1206969193
RET
0.925 0.200 10 43112117 missense variant G/A snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs121913240
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1421685618
rs1421685618
IL31RA
0.925 0.200 5 55910565 missense variant G/A snv 2.1E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs143795581
rs143795581
RET
0.851 0.120 10 43114596 missense variant A/C;G snv 8.0E-06
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.010 1.000 1 2011 2011