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: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.700 0
dbSNP: rs142698837
rs142698837
TG
5 0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 0.700 0
dbSNP: rs35187787
rs35187787
6 0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs6759952
rs6759952
2 1.000 0.080 2 217406996 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs7037324
rs7037324
3 0.882 0.080 9 97896036 regulatory region variant A/G snv 0.71 0.710 1.000 1 2015 2015
dbSNP: rs10122541
rs10122541
1 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs10983700
rs10983700
2 1.000 0.080 9 97775173 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs10984103
rs10984103
2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2009 2009
dbSNP: rs11693806
rs11693806
2 0.925 0.120 2 217427435 non coding transcript exon variant C/A;G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs12129938
rs12129938
1 1.000 0.080 1 233276815 intron variant A/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs12348691
rs12348691
2 0.925 0.120 9 97846400 intron variant G/A snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs1443435
rs1443435
1 1.000 0.080 9 97855301 3 prime UTR variant T/C snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs1443438
rs1443438
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2289261
rs2289261
1 1.000 0.080 15 67165147 intron variant G/C;T snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs2466076
rs2466076
1 1.000 0.080 8 32575278 intron variant G/T snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs368187
rs368187
2 0.925 0.080 14 36063370 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs56062135
rs56062135
8 0.790 0.200 15 67163292 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs6793295
rs6793295
6 0.827 0.240 3 169800667 missense variant T/C;G snv 0.37; 1.8E-04 0.700 1.000 1 2017 2017
dbSNP: rs7024345
rs7024345
2 0.925 0.080 9 97832956 intron variant A/G snv 0.82 0.700 1.000 1 2009 2009
dbSNP: rs7030280
rs7030280
2 1.000 0.080 9 97772985 intron variant C/T snv 0.72 0.700 1.000 1 2010 2010
dbSNP: rs73227498
rs73227498
1 1.000 0.080 5 112150207 intron variant A/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7848973
rs7848973
2 0.925 0.080 9 97826557 intron variant A/G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs7866436
rs7866436
2 0.925 0.080 9 97887814 intergenic variant G/A snv 0.70 0.700 1.000 1 2013 2013