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: rs11675342
rs11675342
TPO
5 0.851 0.040 2 1403856 intron variant C/T snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs117372389
rs117372389
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs11741255
rs11741255
14 0.724 0.240 5 132475490 intron variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs11746555
rs11746555
4 0.882 5 132391341 intron variant G/A snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs11757201
rs11757201
5 0.851 0.040 6 137682685 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11785816
rs11785816
4 0.882 8 128518940 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs1199047
rs1199047
4 0.882 11 64350711 intron variant A/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs12232497
rs12232497
18 0.701 0.360 17 39883866 intergenic variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs12482947
rs12482947
5 0.851 0.040 21 42431928 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs1250563
rs1250563
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs12598357
rs12598357
15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs12863738
rs12863738
14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs12928404
rs12928404
15 0.724 0.240 16 28835925 splice region variant T/C snv 0.44 0.45 0.700 1.000 1 2015 2015
dbSNP: rs12980063
rs12980063
4 0.882 19 49693735 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs1320344
rs1320344
4 0.882 12 103493699 intron variant A/G snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs13299616
rs13299616
4 0.882 9 120832525 intron variant T/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs13380830
rs13380830
4 0.882 17 42145640 intron variant C/G snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs142647938
rs142647938
4 0.882 2 162516642 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1443438
rs1443438
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs145268310
rs145268310
4 0.882 3 12269274 regulatory region variant G/C snv 9.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs1530687
rs1530687
4 0.882 3 119395668 intron variant G/A snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs1534430
rs1534430
5 0.851 0.040 2 12504610 intron variant C/T snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs1549922
rs1549922
4 0.882 5 159304540 intergenic variant G/A snv 0.56 0.700 1.000 1 2019 2019