Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517065 15 34792471 missense variant G/A snp 2
rs387906875 0.923 0.071 10 119670037 stop gained C/T snp 8.0E-06 3
rs869248137 0.923 0.036 10 119676479 stop gained C/T snp 4.0E-06 3
rs397516881 1.000 10 119676917 missense variant G/A snp 2
rs727505109 1.000 10 119676621 frameshift variant CC/C in-del 2
rs727502897 10 119651747 frameshift variant CC/C in-del 1
rs727505283 10 119651775 frameshift variant GACCGGCTG/G in-del 1
rs730880055 10 119676851 stop gained C/T snp 1
rs869025365 10 119672657 splice donor variant G/A snp 1
rs876657634 10 119672477 stop gained C/T snp 1
rs267607490
DES
0.878 0.143 2 219425734 missense variant C/T snp 4
rs62636495
DES
0.923 0.179 2 219418500 missense variant C/T snp 2
rs1131692278 0.923 0.071 18 31546441 frameshift variant AAGAG/A in-del 4.0E-06; 3.6E-05 3.2E-05 3
rs794728096 0.923 0.071 18 31546445 frameshift variant GAGAG/G in-del 3
rs121912997
DSP
0.923 0.143 6 7579989 stop gained C/G,T snp 3
rs587782927
DSP
1.000 0.036 6 7574086 frameshift variant GAG/G in-del 3
rs397516973
DSP
1.000 0.071 6 7565448 stop gained C/A,T snp 1.2E-05 2
rs148894066
DSP
6 7579697 stop gained C/A,T snp 1.4E-04 9.6E-05 1
rs397516913
DSP
6 7567786 frameshift variant TT/T in-del 1
rs397516927
DSP
6 7577013 stop gained A/AA in-del 1
rs397516945
DSP
6 7559337 frameshift variant T/TA in-del 1
rs397516956
DSP
6 7562766 frameshift variant A/AA in-del 1
rs727502994
DSP
6 7581569 frameshift variant G/GAG in-del 1
rs727504498
DSP
6 7570477 stop gained C/T snp 1
rs727504738
DSP
6 7559294 stop gained GCC/GAGCTCGAGTCCCTCG in-del 1