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: rs1057516390
rs1057516390
1 1.000 0.120 13 76995901 splice acceptor variant G/- del 0.700 0
dbSNP: rs1057516814
rs1057516814
1 1.000 0.120 13 76992171 frameshift variant TC/G delins 0.700 0
dbSNP: rs1057517134
rs1057517134
1 1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins 0.700 0
dbSNP: rs147065248
rs147065248
1 1.000 0.120 13 76996034 missense variant T/C snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1555273567
rs1555273567
1 1.000 0.120 13 76992116 frameshift variant C/- del 0.700 0
dbSNP: rs1555273609
rs1555273609
1 1.000 0.120 13 76992215 frameshift variant G/- delins 0.700 0
dbSNP: rs1555273882
rs1555273882
1 1.000 0.120 13 76995079 frameshift variant C/- delins 0.700 0
dbSNP: rs1555273992
rs1555273992
1 1.000 0.120 13 76995998 frameshift variant T/- delins 0.700 0
dbSNP: rs1555274005
rs1555274005
1 1.000 0.120 13 76996071 frameshift variant -/TGATG delins 0.700 0
dbSNP: rs1555274014
rs1555274014
1 1.000 0.120 13 76996128 splice donor variant G/A snv 0.700 0
dbSNP: rs1555274312
rs1555274312
1 1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 0.700 0
dbSNP: rs1555274337
rs1555274337
1 1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins 0.700 0
dbSNP: rs1555274338
rs1555274338
2 1.000 0.120 13 77000567 stop gained G/A;C snv 0.700 0
dbSNP: rs1555274343
rs1555274343
1 1.000 0.120 13 77000594 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555274344
rs1555274344
1 1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 0.700 0
dbSNP: rs1555274365
rs1555274365
1 1.000 0.120 13 77000729 frameshift variant GGAA/- delins 0.700 0
dbSNP: rs1555274369
rs1555274369
1 1.000 0.120 13 77000796 frameshift variant A/- delins 0.700 0
dbSNP: rs1566219136
rs1566219136
1 1.000 0.120 13 76995993 missense variant G/A snv 0.700 0
dbSNP: rs200348035
rs200348035
1 1.000 0.120 13 76992182 stop gained G/A;T snv 4.5E-06 0.700 0
dbSNP: rs202146713
rs202146713
1 1.000 0.120 13 76995233 splice region variant G/C snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs267606738
rs267606738
1 1.000 0.120 13 76995119 missense variant G/A snv 0.700 0
dbSNP: rs386833963
rs386833963
1 1.000 0.120 13 77000771 stop gained C/A snv 0.700 0
dbSNP: rs386833964
rs386833964
1 1.000 0.120 13 77000813 frameshift variant CT/- delins 0.700 0
dbSNP: rs386833965
rs386833965
1 1.000 0.120 13 77000817 frameshift variant TT/- del 0.700 0
dbSNP: rs386833966
rs386833966
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 0