Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567878148
rs1567878148
2 0.925 0.200 17 61861484 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs775171520
rs775171520
4 0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057517643
rs1057517643
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs1057517648
rs1057517648
4 0.882 0.280 17 61859795 splice donor variant C/- delins 0.700 0
dbSNP: rs1060501739
rs1060501739
2 0.925 0.200 17 61784403 stop gained G/A snv 0.700 0
dbSNP: rs1060501740
rs1060501740
2 0.925 0.200 17 61857167 stop gained G/T snv 1.2E-05 0.700 0
dbSNP: rs1060501757
rs1060501757
2 0.925 0.200 17 61781006 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1060501763
rs1060501763
2 0.925 0.200 17 61859794 splice donor variant A/C snv 0.700 0
dbSNP: rs1060501765
rs1060501765
2 0.925 0.200 17 61847214 stop gained T/A;C snv 0.700 0
dbSNP: rs1060501766
rs1060501766
2 0.925 0.200 17 61686136 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1060501772
rs1060501772
1 1.000 0.080 17 61776412 frameshift variant -/C delins 0.700 0
dbSNP: rs1060501778
rs1060501778
2 0.925 0.200 17 61847180 frameshift variant A/- delins 0.700 0
dbSNP: rs1060501779
rs1060501779
2 0.925 0.200 17 61808753 splice acceptor variant G/-;GG delins 0.700 0
dbSNP: rs1304655615
rs1304655615
2 0.925 0.200 17 61799278 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1339743866
rs1339743866
2 0.925 0.200 17 61784303 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs1342519012
rs1342519012
1 1.000 0.080 17 61683974 frameshift variant C/- delins 8.0E-06 0.700 0
dbSNP: rs1436085018
rs1436085018
2 0.925 0.200 17 61801454 stop gained A/C snv 4.0E-06 0.700 0
dbSNP: rs1483527885
rs1483527885
2 0.925 0.200 17 61715978 frameshift variant -/A delins 1.4E-05 0.700 0
dbSNP: rs1555573497
rs1555573497
2 0.925 0.200 17 61686152 stop gained C/T snv 0.700 0
dbSNP: rs1555574803
rs1555574803
2 0.925 0.200 17 61693488 stop gained C/T snv 0.700 0
dbSNP: rs1555580769
rs1555580769
1 1.000 0.080 17 61715952 frameshift variant T/- del 0.700 0
dbSNP: rs1555580957
rs1555580957
1 1.000 0.080 17 61716043 frameshift variant GTA/CAAAT delins 0.700 0
dbSNP: rs1555590286
rs1555590286
2 1.000 0.080 17 61743012 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1555591365
rs1555591365
1 1.000 0.080 17 61744471 frameshift variant G/- del 0.700 0
dbSNP: rs1555591385
rs1555591385
2 0.925 0.200 17 61744483 frameshift variant -/A delins 0.700 0