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: rs1057517809
rs1057517809
4 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1057519368
rs1057519368
4 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1060500115
rs1060500115
2 1.000 0.080 10 87957938 frameshift variant -/T delins 0.700 0
dbSNP: rs1114167624
rs1114167624
2 1.000 0.080 10 87961120 splice donor variant T/C;G snv 0.700 0
dbSNP: rs1114167627
rs1114167627
1 10 87933192 frameshift variant T/- delins 0.700 0
dbSNP: rs1114167628
rs1114167628
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.700 0
dbSNP: rs1114167632
rs1114167632
2 1.000 0.080 10 87952136 frameshift variant -/A delins 0.700 0
dbSNP: rs1114167634
rs1114167634
1 10 87960903 frameshift variant T/- delins 0.700 0
dbSNP: rs1114167635
rs1114167635
1 10 87952137 frameshift variant AGAG/- del 0.700 0
dbSNP: rs1114167636
rs1114167636
1 10 87894054 frameshift variant TT/- delins 0.700 0
dbSNP: rs1114167637
rs1114167637
1 10 87933019 frameshift variant A/- delins 0.700 0
dbSNP: rs1114167638
rs1114167638
1 10 87961083 frameshift variant -/CA delins 0.700 0
dbSNP: rs1114167641
rs1114167641
2 1.000 0.080 10 87933200 frameshift variant GG/A delins 0.700 0
dbSNP: rs1114167643
rs1114167643
1 10 87960978 frameshift variant T/- del 0.700 0
dbSNP: rs1114167644
rs1114167644
1 10 87961006 frameshift variant G/- del 0.700 0
dbSNP: rs1114167646
rs1114167646
1 10 87958008 frameshift variant -/TG delins 0.700 0
dbSNP: rs1114167648
rs1114167648
1 10 87960907 missense variant A/C snv 0.700 0
dbSNP: rs1114167652
rs1114167652
1 10 87952180 frameshift variant CT/- delins 0.700 0
dbSNP: rs1114167653
rs1114167653
1 10 87864541 frameshift variant -/T delins 0.700 0
dbSNP: rs1114167655
rs1114167655
1 10 87960941 frameshift variant A/- del 0.700 0
dbSNP: rs1114167657
rs1114167657
1 10 87933189 frameshift variant A/- delins 0.700 0
dbSNP: rs1114167659
rs1114167659
1 10 87933135 frameshift variant GC/- del 0.700 0
dbSNP: rs1114167662
rs1114167662
1 10 87957957 frameshift variant T/- delins 0.700 0
dbSNP: rs1114167665
rs1114167665
1 10 87958021 splice donor variant T/A snv 0.700 0
dbSNP: rs1114167668
rs1114167668
1 10 87933030 frameshift variant G/- del 0.700 0