Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516927
DSP
6 7577013 stop gained A/AA in-del 1
rs397516956
DSP
6 7562766 frameshift variant A/AA in-del 1
rs397517245
VCL
10 74074779 stop gained A/AA in-del 1
rs397517626 1.000 0.036 2 178598977 frameshift variant A/AT in-del 4.1E-06 3.2E-05 2
rs774604740 1.000 0.036 2 178570016 frameshift variant A/AT in-del 4.0E-06 2
rs869312045
TTN
2 178620853 frameshift variant A/AT in-del 1
rs869312056 2 178571825 frameshift variant A/AT in-del 1
rs397517888 1 156136079 frameshift variant A/ATGGA in-del 1
rs397516454 1 201365610 missense variant A/C snp 1
rs727504646 2 178551055 stop gained A/C snp 1
rs869312046
TTN
2 178620798 stop gained A/C snp 1
rs199476401 0.878 10 68121896 missense variant A/C,G snp 4.0E-06 9.6E-05 2
rs397517620 2 178604051 stop gained A/C,G snp 1
rs58917027 1.000 0.107 1 156130708 missense variant A/C,G snp 1
rs869312105
TTN
2 178635489 stop gained A/C,G snp 3.2E-05 1
rs121913642 0.923 0.036 14 23427879 missense variant A/G snp 2
rs397516352 19 55154115 missense variant A/G snp 1
rs397516370 15 63057085 missense variant A/G snp 1
rs727503738
VCL
10 74095654 splice acceptor variant A/G snp 1
rs869312054 2 178593566 splice donor variant A/G snp 1
rs267607155
TTN
0.923 0.036 2 178782980 missense variant A/G,T snp 2
rs28933092 1.000 0.036 1 156134497 missense variant A/G,T snp 2
rs397516258 0.923 0.036 14 23431798 missense variant A/G,T snp 1
rs397517586 2 178618777 stop gained A/G,T snp 1
rs397517735 0.923 0.143 2 178559309 splice donor variant A/T snp 4.4E-06 3.2E-05 3