Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869025483 14 23413805 protein altering variant GACT/A delins 1
rs397516784 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 4
rs45578238 0.882 0.080 1 201361971 inframe deletion CTT/- delins 4
rs397517887 1 156136074 inframe deletion ATGGAGATCCACGCC/- delins 1
rs58978449 1 156134943 inframe deletion AAG/- delins 1
rs794728597 1 156130624 inframe deletion AAG/- delins 1
rs267607581 0.925 0.080 1 156137651 splice region variant C/G snv 4
rs58596362 0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06 4
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs587782987 2 178611274 splice region variant G/A snv 1.1E-04; 4.1E-06 1.0E-04 1
rs869312070 0.925 0.160 2 178613938 splice acceptor variant C/T snv 4.1E-06 3
rs111569862 1 156137653 splice acceptor variant G/A;C snv 1
rs202234172 2 178689897 splice acceptor variant C/T snv 3.4E-04 4.7E-04 1
rs6716782 2 178706956 splice acceptor variant T/G snv 1.3E-04 5.9E-04 1
rs727503738
VCL
10 74095654 splice acceptor variant A/G snv 1
rs748369265 2 178601788 splice acceptor variant C/T snv 9.3E-05 1.4E-05 1
rs869025548 2 178620627 splice acceptor variant T/C snv 1
rs869025549 2 178583229 splice acceptor variant T/C snv 1
rs869025550 2 178579395 splice acceptor variant T/C snv 1
rs869312041 2 178682904 splice acceptor variant C/- del 1
rs869312073 2 178592278 splice acceptor variant C/T snv 1
rs876657665 2 178614754 splice acceptor variant C/G snv 1
rs876657667 2 178586809 splice acceptor variant T/C snv 1
rs876657668 2 178585348 splice acceptor variant C/G snv 1