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: rs386833703
rs386833703
1 1.000 0.120 16 28477586 missense variant T/C snv 4.0E-06 7.0E-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: rs386833723
rs386833723
1 1.000 0.120 16 28486639 missense variant C/G;T snv 4.2E-06 0.700 0
dbSNP: rs386833733
rs386833733
1 1.000 0.120 16 28486449 missense variant C/T snv 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: rs1555468632
rs1555468632
2 0.925 0.160 16 28485963 splice donor variant TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/- delins 0.700 1.000 3 1995 2008
dbSNP: rs386833728
rs386833728
1 1.000 0.120 16 28486577 splice donor variant C/G;T snv 0.700 1.000 2 1999 2015
dbSNP: rs1057516267
rs1057516267
1 1.000 0.120 16 28482326 splice donor variant C/T snv 0.700 0
dbSNP: rs1057516343
rs1057516343
1 1.000 0.120 16 28491713 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1057517287
rs1057517287
1 1.000 0.120 16 28486346 splice donor variant C/A snv 0.700 0
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: rs1555469452
rs1555469452
1 1.000 0.120 16 28491481 splice donor variant C/- delins 0.700 0
dbSNP: rs386833710
rs386833710
1 1.000 0.120 16 28489288 splice donor variant A/C snv 0.700 0
dbSNP: rs386833741
rs386833741
1 1.000 0.120 16 28482309 splice donor variant CCTCGCTCCTCTTACCAGCGGTATTGC/- delins 2.1E-05 0.700 0
dbSNP: rs771788391
rs771788391
1 1.000 0.120 16 28482475 splice donor variant A/T snv 8.0E-06 0.700 0
dbSNP: rs386833740
rs386833740
2 0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 0.700 1.000 3 1997 2013
dbSNP: rs386833712
rs386833712
1 1.000 0.120 16 28488651 frameshift variant -/C delins 0.700 1.000 1 2012 2012
dbSNP: rs386833720
rs386833720
2 0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs386833729
rs386833729
1 1.000 0.120 16 28486465 frameshift variant CT/- del 0.700 1.000 1 1997 1997
dbSNP: rs1057516335
rs1057516335
1 1.000 0.120 16 28484112 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517215
rs1057517215
1 1.000 0.120 16 28488603 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555467473
rs1555467473
1 1.000 0.120 16 28477866 frameshift variant -/A delins 0.700 0
dbSNP: rs1555469159
rs1555469159
1 1.000 0.120 16 28489316 frameshift variant -/G delins 0.700 0
dbSNP: rs386833696
rs386833696
1 1.000 0.120 16 28482113 frameshift variant G/- delins 0.700 0