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: rs1057516216
rs1057516216
1 1.000 0.120 7 117592659 splice donor variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1057516236
rs1057516236
1 1.000 0.120 7 117592596 frameshift variant G/- del 0.700 0
dbSNP: rs1057516387
rs1057516387
1 1.000 0.120 7 117540116 frameshift variant -/TC delins 0.700 0
dbSNP: rs1057516415
rs1057516415
1 1.000 0.120 7 117610522 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516457
rs1057516457
2 0.925 0.160 7 117664711 frameshift variant CA/- delins 0.700 0
dbSNP: rs1057516609
rs1057516609
1 1.000 0.120 7 117627586 stop gained C/A snv 0.700 0
dbSNP: rs1057516646
rs1057516646
1 1.000 0.120 7 117536546 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057516970
rs1057516970
1 1.000 0.120 7 117627548 frameshift variant G/- del 0.700 0
dbSNP: rs1057517032
rs1057517032
1 1.000 0.120 7 117603725 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517276
rs1057517276
1 1.000 0.120 7 117592649 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517404
rs1057517404
1 1.000 0.120 7 117642569 frameshift variant -/AA delins 0.700 0
dbSNP: rs1177201180
rs1177201180
1 1.000 0.120 7 117592160 missense variant A/T snv 0.700 0
dbSNP: rs1199914684
rs1199914684
1 1.000 0.120 7 117536639 stop gained G/T snv 0.700 0
dbSNP: rs1204521684
rs1204521684
1 1.000 0.120 7 117540180 missense variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs121908754
rs121908754
1 1.000 0.120 7 117559643 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121908763
rs121908763
1 1.000 0.120 7 117627640 stop gained C/G snv 8.0E-06 0.700 0
dbSNP: rs121908766
rs121908766
1 1.000 0.120 7 117627765 stop gained C/A;T snv 8.1E-06 0.700 0
dbSNP: rs121908770
rs121908770
1 1.000 0.120 7 117531067 frameshift variant A/- del 0.700 0
dbSNP: rs121908773
rs121908773
1 1.000 0.120 7 117536607 frameshift variant AT/- delins 0.700 0
dbSNP: rs121908779
rs121908779
2 0.925 0.160 7 117592090 frameshift variant CTCAAAACT/A delins 0.700 0
dbSNP: rs121908788
rs121908788
1 1.000 0.120 7 117603611 stop gained -/G ins 0.700 0
dbSNP: rs121908794
rs121908794
2 0.925 0.160 7 117590352 splice acceptor variant G/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121908798
rs121908798
1 1.000 0.120 7 117530950 frameshift variant TAT/G;T delins 0.700 0
dbSNP: rs121908800
rs121908800
1 1.000 0.120 7 117504365 splice donor variant T/A;C;G snv 0.700 0
dbSNP: rs121908804
rs121908804
1 1.000 0.120 7 117535388 splice donor variant GAGAATGATGATGAAGTACAGG/- delins 0.700 0