Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs727505077
DSP
6 7571432 frameshift variant GA/G in-del 1
rs727505115
DSP
6 7572069 splice donor variant G/A,C snp 1
rs730880093
DSP
6 7583655 frameshift variant CA/C in-del 1
rs869025398
DSP
6 7567451 splice donor variant T/G snp 1
rs869025399
DSP
6 7582987 frameshift variant AA/A in-del 1
rs879255521
DSP
6 7580193 stop gained C/T snp 4.0E-06 1
rs267607554 1 156135925 stop gained C/T snp 1
rs267607593 1 156134964 missense variant T/C snp 1
rs267607594 0.923 0.107 1 156130745 missense variant T/C snp 1
rs267607646 1 156115266 frameshift variant G/GG in-del 1
rs28933090 0.923 0.143 1 156115172 missense variant T/A,G snp 1
rs397517887 1 156136075 inframe deletion CATGGAGATCCACGCC/C in-del 1