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: rs10206961
rs10206961
2 0.925 0.080 2 85587861 intron variant C/T snv 0.53 0.020 1.000 2 2016 2018
dbSNP: rs104894387
rs104894387
3 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.010 1.000 1 1994 1994
dbSNP: rs104894389
rs104894389
2 0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10883866
rs10883866
3 0.882 0.160 10 81883883 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11197571
rs11197571
1 1.000 0.080 10 116183122 intron variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs11241200
rs11241200
MCC
1 1.000 0.080 5 113339402 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs112618428
rs112618428
1 1.000 0.080 13 77903255 synonymous variant G/A snv 8.0E-06 5.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs117617821
rs117617821
2 0.925 0.080 7 84692873 intergenic variant T/C snv 2.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs11766001
rs11766001
1 1.000 0.080 7 84515886 intergenic variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs11795613
rs11795613
2 0.925 0.120 X 71147478 intron variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1183365192
rs1183365192
RET
4 0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs12220534
rs12220534
1 1.000 0.080 10 43238858 intron variant T/G snv 0.16 0.700 1.000 1 2009 2009
dbSNP: rs12428625
rs12428625
2 0.925 0.080 13 86134644 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1254900
rs1254900
4 0.851 0.120 2 85589211 intron variant A/G snv 0.81 0.020 1.000 2 2016 2018
dbSNP: rs12707682
rs12707682
1 1.000 0.080 7 84814040 intergenic variant T/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs13017697
rs13017697
1 1.000 0.080 2 144399748 missense variant G/A;T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs13223150
rs13223150
2 0.925 0.080 7 130684771 intron variant A/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1365019464
rs1365019464
1 1.000 0.080 22 37974187 missense variant C/T snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs139392904
rs139392904
1 1.000 0.080 15 87929391 missense variant G/A snv 8.0E-04 5.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs141893504
rs141893504
1 1.000 0.080 7 85022533 missense variant G/T snv 4.0E-03 4.2E-03 0.700 0
dbSNP: rs1419539530
rs1419539530
1 1.000 0.080 21 40189232 missense variant G/A snv 9.5E-06 7.0E-06 0.700 0
dbSNP: rs1421589
rs1421589
1 1.000 0.080 2 50063015 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs14242
rs14242
1 1.000 0.080 2 85593289 3 prime UTR variant C/T snv 8.3E-02 0.010 1.000 1 2018 2018