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: rs781609053
rs781609053
EGFR
3 0.925 0.120 7 55200379 missense variant T/C snv 1.2E-05 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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: rs750371239
rs750371239
ATM
1 1.000 0.080 11 108252912 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs777122776
rs777122776
RET
1 1.000 0.080 10 43114515 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
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: rs3026785
rs3026785
RET
1 1.000 0.080 10 43130238 3 prime UTR variant T/C snv 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs377767442
rs377767442
RET
5 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 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: 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: rs2075912
rs2075912
RET
2 0.925 0.160 10 43126769 3 prime UTR variant T/C snv 0.79 0.84 0.010 < 0.001 1 2017 2017
dbSNP: rs2565200
rs2565200
RET
2 0.925 0.160 10 43127485 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2017 2017
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: 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