Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs143795581
rs143795581
RET
5 0.851 0.120 10 43114596 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2005 2016
dbSNP: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs1188536960
rs1188536960
SORD
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs33927012
rs33927012
SDHB
1 1.000 0.080 1 17027802 missense variant A/G snv 1.2E-02 9.3E-03 0.010 1.000 1 2005 2005
dbSNP: rs377767395
rs377767395
RET
4 0.882 0.120 10 43113613 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs377767415
rs377767415
RET
2 0.925 0.120 10 43118418 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs377767442
rs377767442
RET
5 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.750 0.833 6 2005 2015
dbSNP: rs121913306
rs121913306
RET
4 0.851 0.120 10 43120119 missense variant AGC/TTT mnv 0.020 1.000 2 2011 2017
dbSNP: rs773631693
rs773631693
RET
1 1.000 0.080 10 43106436 missense variant C/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1800863
rs1800863
RET
4 0.851 0.160 10 43120185 synonymous variant C/A;G snv 1.6E-05; 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs145633958
rs145633958
RET
1 1.000 0.080 10 43100551 missense variant C/A;T snv 2.7E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs77709286
rs77709286
RET
12 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.730 1.000 6 2002 2017
dbSNP: rs377767426
rs377767426
RET
2 1.000 0.080 10 43119694 missense variant C/G snv 1.8E-04 1.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs377767427
rs377767427
RET
3 0.882 0.120 10 43120114 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs104886028
rs104886028
KRAS
1 1.000 0.080 12 25227308 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs146838520
rs146838520
RET
4 0.851 0.120 10 43120129 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs148935214
rs148935214
RET
3 0.882 0.240 10 43114546 missense variant C/T snv 3.2E-04 3.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2005 2016
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2014 2014