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: 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: 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: 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
dbSNP: rs1555602127
rs1555602127
2 0.925 0.200 17 61780277 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555603638
rs1555603638
4 0.882 0.280 17 61784425 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555605902
rs1555605902
3 0.925 0.200 17 61793656 stop gained C/A;G snv 0.700 0
dbSNP: rs1555609116
rs1555609116
2 0.925 0.200 17 61808467 frameshift variant G/- del 0.700 0
dbSNP: rs1555609191
rs1555609191
4 0.882 0.280 17 61808545 frameshift variant A/- del 0.700 0
dbSNP: rs1555616150
rs1555616150
1 1.000 0.080 17 61849158 frameshift variant T/- delins 0.700 0
dbSNP: rs1555616176
rs1555616176
2 0.925 0.080 17 61849196 frameshift variant T/- del 0.700 0
dbSNP: rs1555617925
rs1555617925
2 0.925 0.200 17 61857227 frameshift variant T/- delins 0.700 0
dbSNP: rs1567731917
rs1567731917
2 0.925 0.200 17 61686101 frameshift variant G/- delins 0.700 0