Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918461 0.801 0.250 12 112450362 missense variant A/C,G,T snp 4
rs1057518791 0.923 0.107 8 115604739 stop gained C/T snp 8
rs119103263 0.821 0.143 1 11992659 missense variant C/T snp 19
rs121434616 1.000 0.071 X 120544179 stop gained G/A snp 6
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp 7
rs1057518799 0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del 7
rs28935469 0.846 0.179 X 154367844 missense variant G/A snp 4
rs141322087 0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05 12
rs121913482 0.685 0.393 4 1801837 missense variant C/T snp 23
rs121913115 1.000 0.107 4 1801928 missense variant A/G snp 2
rs28933068 0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05 6
rs748106387 0.923 0.071 2 216415427 stop gained C/A,T snp 2.8E-05 3.2E-05 8
rs119473033 0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04 9
rs199474657 0.744 0.321 MT 3243 non coding transcript exon variant snp 15
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del 9
rs1057518940 0.923 0.036 19 38499718 missense variant G/A snp 4
rs397517148 0.846 0.179 2 39023128 missense variant C/T snp 5
rs1801175 0.821 0.143 17 42903947 missense variant C/T snp 5.7E-04 2.2E-04 4
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06 16
rs1057519436 0.878 0.179 3 47846550 missense variant G/A snp 7
rs753242774 1.000 3 47848237 missense variant C/A,T snp 9
rs1057518908 0.923 0.071 12 47984112 missense variant C/T snp 6
rs1131691804 0.878 0.143 15 48463123 missense variant G/A snp 5
rs1057518863 0.923 0.107 3 48567190 missense variant C/A,T snp 4
rs121912855 0.821 0.107 3 48575218 missense variant G/A snp 2.0E-05 17