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: rs1555468374
rs1555468374
1 1.000 0.120 16 28484005 splice donor variant C/- delins 0.700 0
dbSNP: rs1555468634
rs1555468634
2 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 0.700 0
dbSNP: rs1555469089
rs1555469089
1 1.000 0.120 16 28488663 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555469159
rs1555469159
1 1.000 0.120 16 28489316 frameshift variant -/G delins 0.700 0
dbSNP: rs1555469452
rs1555469452
1 1.000 0.120 16 28491481 splice donor variant C/- delins 0.700 0
dbSNP: rs1555469477
rs1555469477
1 1.000 0.120 16 28491561 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386833696
rs386833696
1 1.000 0.120 16 28482113 frameshift variant G/- delins 0.700 0
dbSNP: rs386833698
rs386833698
2 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 0
dbSNP: rs386833699
rs386833699
1 1.000 0.120 16 28482105 missense variant C/G snv 0.700 0
dbSNP: rs386833700
rs386833700
1 1.000 0.120 16 28491502 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs386833705
rs386833705
1 1.000 0.120 16 28489387 splice acceptor variant C/T snv 4.2E-06 0.700 0
dbSNP: rs386833706
rs386833706
1 1.000 0.120 16 28477565 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs386833707
rs386833707
1 1.000 0.120 16 28477561 frameshift variant C/- delins 0.700 0
dbSNP: rs386833708
rs386833708
1 1.000 0.120 16 28491759 start lost T/C;G snv 8.0E-06 0.700 0
dbSNP: rs386833710
rs386833710
1 1.000 0.120 16 28489288 splice donor variant A/C snv 0.700 0
dbSNP: rs386833711
rs386833711
1 1.000 0.120 16 28489285 splice region variant C/G snv 0.700 0
dbSNP: rs386833713
rs386833713
1 1.000 0.120 16 28488620 stop gained G/A snv 0.700 0
dbSNP: rs386833715
rs386833715
1 1.000 0.120 16 28487665 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs386833716
rs386833716
1 1.000 0.120 16 28487662 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs386833717
rs386833717
2 0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 4.0E-06 0.700 0
dbSNP: rs386833721
rs386833721
1 1.000 0.120 16 28486663 non coding transcript exon variant C/A;G;T snv 4.5E-06; 1.3E-05 0.700 0
dbSNP: rs386833722
rs386833722
1 1.000 0.120 16 28486651 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs386833723
rs386833723
1 1.000 0.120 16 28486639 missense variant C/G;T snv 4.2E-06 0.700 0
dbSNP: rs386833724
rs386833724
1 1.000 0.120 16 28486629 stop gained G/A;C snv 0.700 0
dbSNP: rs386833725
rs386833725
1 1.000 0.120 16 28486626 stop gained G/C snv 0.700 0