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: rs375168720
rs375168720
4 0.878 0.107 8 38253642 missense variant G/C snp 6.0E-05 9.6E-05 0.700 5 2013 2015
dbSNP: rs796052908
rs796052908
3 0.923 0.107 15 89327329 frameshift variant CAG/C in-del 4.0E-06 0.700 3 2004 2015
dbSNP: rs121964976
rs121964976
5 0.846 0.143 9 6589230 missense variant C/G,T snp 8.7E-05; 2.3E-02 9.6E-05; 2.0E-02 0.700 2 2000 2015
dbSNP: rs1057518843
rs1057518843
18 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057518848
rs1057518848
2 18 55229003 frameshift variant C/CATTG in-del 0.700 1 2015 2015
dbSNP: rs1057518849
rs1057518849
4 1.000 0.071 9 137800985 splice donor variant G/A,C snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs1057518864
rs1057518864
7 18 55350409 splice acceptor variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057518913
rs1057518913
6 0.923 0.107 9 137762822 splice donor variant T/C snp 0.700 1 2015 2015
dbSNP: rs1057518918
rs1057518918
6 0.923 0.143 6 157184329 frameshift variant AC/A in-del 0.700 1 2015 2015
dbSNP: rs1057518921
rs1057518921
7 X 71132465 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs1057518932
rs1057518932
2 17 44855003 missense variant T/A snp 0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
7 0.878 0.250 2 1484815 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057518951
rs1057518951
5 0.846 0.143 6 156829296 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs1057518961
rs1057518961
5 1.000 0.036 14 102012450 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1060499733
rs1060499733
8 0.923 0.071 3 47846757 missense variant A/G snp 0.700 1 2017 2017
dbSNP: rs1060499738
rs1060499738
2 7 100647014 missense variant C/T snp 0.700 1 2016 2016
dbSNP: rs1060499739
rs1060499739
2 3 101757754 missense variant A/G snp 0.700 1 2016 2016
dbSNP: rs1060499744
rs1060499744
2 8 38138822 missense variant A/G snp 0.700 1 2016 2016
dbSNP: rs1060499759
rs1060499759
2 X 77688879 missense variant A/T snp 0.700 1 2016 2016
dbSNP: rs1060499760
rs1060499760
2 X 77683580 missense variant G/A snp 0.700 1 2016 2016
dbSNP: rs1114167301
rs1114167301
6 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017
dbSNP: rs1114167303
rs1114167303
SON
2 21 33553083 frameshift variant TGGTAT/T in-del 0.700 1 2017 2017
dbSNP: rs1135401778
rs1135401778
5 1.000 17 67854315 frameshift variant CT/C in-del 0.700 1 2017 2017
dbSNP: rs113994152
rs113994152
12 0.801 0.143 17 75522000 missense variant G/T snp 9.0E-04 7.7E-04 0.700 1 2015 2015
dbSNP: rs121434350
rs121434350
3 0.923 0.214 6 135455750 missense variant A/T snp 0.700 1 2015 2015