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: 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: 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: rs377767406
rs377767406
RET
9 0.776 0.120 10 43114491 missense variant G/A;T snv 4.0E-05; 4.0E-06 0.020 1.000 2 2006 2012
dbSNP: rs747844360
rs747844360
RET
1 1.000 0.080 10 43112853 missense variant G/A snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs104886028
rs104886028
KRAS
1 1.000 0.080 12 25227308 missense variant C/T snv 0.010 1.000 1 2013 2013
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: 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: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.770 1.000 8 1995 2015
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: rs76262710
rs76262710
RET
17 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.730 1.000 4 1997 2015
dbSNP: rs77316810
rs77316810
RET
10 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.040 1.000 4 1995 2015
dbSNP: rs79781594
rs79781594
RET
16 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.730 1.000 4 1998 2015
dbSNP: rs377767397
rs377767397
RET
10 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.020 1.000 2 2003 2015
dbSNP: rs377767398
rs377767398
RET
8 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.020 1.000 2 2003 2015
dbSNP: rs77503355
rs77503355
RET
8 0.776 0.160 10 43113655 missense variant G/A;C;T snv 0.710 1.000 2 1997 2015
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: 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