Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35049558 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs727503166 0.851 0.080 11 47332110 frameshift variant T/- del 5
rs1553707780 0.925 0.040 2 178616928 frameshift variant T/- del 4
rs727503172 0.882 0.080 11 47333236 frameshift variant C/- del 4
rs1553663867 0.925 0.160 2 178598969 frameshift variant G/- del 3
rs397515934 0.925 0.080 11 47341140 frameshift variant A/- del 3
rs1555122928 1.000 0.080 11 47347434 frameshift variant C/- del 2
rs1565631430 1.000 0.080 11 47350600 frameshift variant ATGGGCTCTG/- del 2
rs397517408 1.000 0.080 18 31093617 frameshift variant G/- del 2
rs727504466 2 178591326 frameshift variant T/- del 2
rs1559262463 2 178558000 frameshift variant A/- del 1
rs1559556267 2 178588040 frameshift variant CTGCA/- del 1
rs1565623439 11 47333627 frameshift variant TGAAT/- del 1
rs1565627110 11 47341145 frameshift variant G/- del 1
rs1566147422 12 110911146 frameshift variant AG/- del 1
rs730880092
DSP
6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05 1
rs730880655 11 47336010 frameshift variant A/- del 1
rs730880714 11 47337721 frameshift variant C/- del 1
rs730880715 11 47337450 frameshift variant G/- del 1
rs730880717 11 47335038 splice donor variant TCACGCAGGATCTCCT/- del 1
rs794729354 2 178559741 frameshift variant AGTAC/- del 1
rs397516059 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 5
rs397516029 0.882 0.080 11 47332569 frameshift variant G/-;GG delins 4.0E-06 4
rs397516706 0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins 4
rs397516784 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 4