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: rs104886028
rs104886028
KRAS
1 1.000 0.080 12 25227308 missense variant C/T snv 0.010 1.000 1 2013 2013
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: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 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: 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: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1188536960
rs1188536960
SORD
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.020 1.000 2 2014 2017
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.710 1.000 1 2014 2014
dbSNP: rs121913306
rs121913306
RET
4 0.851 0.120 10 43120119 missense variant AGC/TTT mnv 0.020 1.000 2 2011 2017
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: rs121913309
rs121913309
RET
1 1.000 0.080 10 43120164 inframe deletion TGTTTATGAAGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913312
rs121913312
RET
1 1.000 0.080 10 43114494 inframe deletion GAGCTG/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913313
rs121913313
RET
1 1.000 0.080 10 43113626 inframe deletion TTCCCTGAGGAGGAGAAGTGCTTCTGC/- delins 0.700 1.000 1 2014 2014
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: 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: 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: 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: rs146646971
rs146646971
RET
7 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.020 1.000 2 2016 2018
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: rs1555166368
rs1555166368
MEN1
6 0.851 0.120 11 64809738 frameshift variant GA/- del 0.700 0
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.070 0.857 7 2009 2017
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: rs183334241
rs183334241
TSHZ1
2 0.925 0.080 18 75288186 missense variant G/A;C snv 1.6E-04 0.010 1.000 1 2010 2010