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: rs515726117
rs515726117
2 1.000 0.071 16 23603658 frameshift variant AC/A in-del 4.0E-06 0.700 13 2006 2017
dbSNP: rs587776428
rs587776428
2 1.000 0.071 16 23603515 frameshift variant GAG/G in-del 0.700 13 2006 2017
dbSNP: rs121908698
rs121908698
4 1.000 0.071 22 28725242 splice donor variant C/A,T snp 4.0E-06; 1.3E-04 2.2E-04 0.700 12 2003 2017
dbSNP: rs587776426
rs587776426
2 1.000 0.071 16 23603563 frameshift variant G/GT in-del 0.700 11 2006 2017
dbSNP: rs515726123
rs515726123
3 1.000 0.071 16 23636037 frameshift variant TCT/T in-del 0.700 10 2010 2017
dbSNP: rs515726126
rs515726126
2 1.000 0.071 16 23635788 frameshift variant A/AA in-del 0.700 10 2012 2017
dbSNP: rs180177110
rs180177110
2 1.000 0.071 16 23629897 stop gained G/A,T snp 2.4E-05 0.700 8 2007 2017
dbSNP: rs180177127
rs180177127
2 1.000 0.071 16 23622982 frameshift variant C/CA in-del 0.700 8 2007 2017
dbSNP: rs180177102
rs180177102
3 1.000 0.071 16 23634954 frameshift variant CA/C in-del 1.8E-04 9.6E-05 0.700 7 2007 2017
dbSNP: rs180177111
rs180177111
5 0.878 0.071 16 23629831 stop gained G/A snp 4.0E-06 0.700 7 2008 2017
dbSNP: rs180177112
rs180177112
2 1.000 0.071 16 23629768 stop gained C/A snp 4.0E-06 3.2E-05 0.700 7 2007 2017
dbSNP: rs587776527
rs587776527
3 1.000 0.071 16 23607958 stop gained G/A,C snp 2.0E-05 0.700 7 2009 2017
dbSNP: rs730881687
rs730881687
2 1.000 0.071 22 28710060 splice acceptor variant C/A,T snp 1.2E-05; 1.6E-05 0.700 7 2012 2017
dbSNP: rs773829275
rs773829275
1 1.000 0.071 16 23603526 missense variant G/A snp 4.0E-06 0.700 7 2007 2017
dbSNP: rs515726067
rs515726067
2 1.000 0.071 16 23635229 frameshift variant AC/A in-del 0.700 6 2011 2017
dbSNP: rs515726099
rs515726099
2 1.000 0.071 16 23623131 splice acceptor variant C/G,T snp 0.700 6 2007 2017
dbSNP: rs515726104
rs515726104
2 1.000 0.071 16 23621427 frameshift variant CA/C in-del 0.700 6 2012 2017
dbSNP: rs730881422
rs730881422
2 1.000 0.071 2 214730416 stop gained G/A snp 0.700 6 2007 2017
dbSNP: rs1131691045
rs1131691045
2 1.000 0.071 22 28689176 frameshift variant TC/T in-del 0.700 5 2003 2017
dbSNP: rs587776410
rs587776410
2 1.000 0.071 16 23635505 frameshift variant GTTCTT/G in-del 0.700 5 2014 2017
dbSNP: rs587776419
rs587776419
2 1.000 0.071 16 23624008 splice donor variant C/A,T snp 0.700 5 2007 2017
dbSNP: rs587776423
rs587776423
2 1.000 0.071 16 23614003 splice donor variant C/A,G snp 3.2E-05 0.700 5 2007 2017
dbSNP: rs587776425
rs587776425
2 1.000 0.071 16 23603593 frameshift variant G/GT in-del 0.700 5 2007 2017
dbSNP: rs587781269
rs587781269
2 1.000 0.071 22 28734439 stop gained G/A snp 8.0E-06 0.700 5 2008 2017
dbSNP: rs587781707
rs587781707
3 1.000 0.071 2 214752472 stop gained G/A,C snp 1.2E-05 0.700 5 2015 2017