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: rs386833694
rs386833694
2 0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 0.800 1.000 8 1997 2012
dbSNP: rs121434286
rs121434286
3 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.820 1.000 6 1997 2015
dbSNP: rs386833730
rs386833730
1 1.000 0.120 16 28486464 missense variant C/G snv 4.0E-06 0.810 1.000 5 1997 2012
dbSNP: rs386833714
rs386833714
1 1.000 0.120 16 28487734 missense variant A/G snv 0.800 1.000 4 1997 2012
dbSNP: rs386833719
rs386833719
1 1.000 0.120 16 28487516 missense variant A/C;G snv 4.0E-06 0.800 1.000 4 1997 2012
dbSNP: rs386833727
rs386833727
1 1.000 0.120 16 28486602 missense variant A/G snv 0.800 1.000 4 1997 2012
dbSNP: rs386833731
rs386833731
1 1.000 0.120 16 28486459 missense variant C/A;G snv 4.0E-06 0.800 1.000 4 1997 2012
dbSNP: rs386833744
rs386833744
2 0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05 0.800 1.000 4 1997 2012
dbSNP: rs1555468632
rs1555468632
2 0.925 0.160 16 28485963 splice donor variant TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/- delins 0.700 1.000 3 1995 2008
dbSNP: rs267606737
rs267606737
3 0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 0.700 1.000 3 2009 2012
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: rs386833701
rs386833701
1 1.000 0.120 16 28477739 stop gained C/A;G snv 4.0E-06 0.700 1.000 2 2004 2012
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: rs386833712
rs386833712
1 1.000 0.120 16 28488651 frameshift variant -/C delins 0.700 1.000 1 2012 2012
dbSNP: rs386833729
rs386833729
1 1.000 0.120 16 28486465 frameshift variant CT/- del 0.700 1.000 1 1997 1997
dbSNP: rs1057516267
rs1057516267
1 1.000 0.120 16 28482326 splice donor variant C/T snv 0.700 0
dbSNP: rs1057516335
rs1057516335
1 1.000 0.120 16 28484112 frameshift variant -/A delins 0.700 0
dbSNP: rs1057516343
rs1057516343
1 1.000 0.120 16 28491713 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1057516677
rs1057516677
2 0.925 0.120 16 28477875 stop gained G/T snv 0.700 0
dbSNP: rs1057517215
rs1057517215
1 1.000 0.120 16 28488603 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057517287
rs1057517287
1 1.000 0.120 16 28486346 splice donor variant C/A snv 0.700 0
dbSNP: rs1057517350
rs1057517350
1 1.000 0.120 16 28482673 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1418997146
rs1418997146
1 1.000 0.120 16 28482200 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1555467473
rs1555467473
1 1.000 0.120 16 28477866 frameshift variant -/A delins 0.700 0
dbSNP: rs1555468374
rs1555468374
1 1.000 0.120 16 28484005 splice donor variant C/- delins 0.700 0