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: rs587782386
rs587782386
1 2 47800909 missense variant C/T snv 7.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs63750647
rs63750647
1 2 47800283 inframe deletion CCT/- delins 0.700 1.000 5 2007 2014
dbSNP: rs1553408388
rs1553408388
2 2 47783453 stop gained G/T snv 0.700 1.000 4 2006 2015
dbSNP: rs587779220
rs587779220
1 2 47799737 missense variant T/C snv 0.700 1.000 4 2007 2015
dbSNP: rs63751427
rs63751427
1 2 47804953 inframe deletion CTG/-;CTGCTG delins 0.700 1.000 4 2003 2012
dbSNP: rs863225412
rs863225412
2 2 47806297 frameshift variant CTACCATTCATTAGTAGAAGATTATTCTCA/- delins 7.0E-06 0.700 1.000 4 2007 2012
dbSNP: rs587781372
rs587781372
1 2 47800915 stop gained C/G;T snv 0.700 1.000 3 2013 2014
dbSNP: rs1114167767
rs1114167767
2 2 47804948 frameshift variant C/- del 0.700 1.000 2 2012 2016
dbSNP: rs587779941
rs587779941
2 2 47795904 frameshift variant AAAG/- del 0.700 1.000 2 2015 2016
dbSNP: rs730881815
rs730881815
1 2 47799013 stop gained C/G;T snv 0.700 1.000 2 2010 2016
dbSNP: rs876660118
rs876660118
1 2 47806604 frameshift variant AAAGCAAGAGAATTTGAGAAGATGAA/- delins 0.700 1.000 2 2007 2013
dbSNP: rs1114167692
rs1114167692
1 2 47795914 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167746
rs1114167746
1 2 47799410 frameshift variant -/G delins 0.700 1.000 1 2010 2010
dbSNP: rs1114167766
rs1114167766
1 2 47799783 frameshift variant TC/- delins 0.700 1.000 1 2010 2010
dbSNP: rs398123232
rs398123232
2 2 47804985 frameshift variant AG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs587779285
rs587779285
2 2 47806281 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587781544
rs587781544
2 2 47803658 frameshift variant G/-;GG delins 0.700 1.000 1 2017 2017
dbSNP: rs587782281
rs587782281
2 2 47796013 frameshift variant T/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587782625
rs587782625
1 2 47804923 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2007 2007
dbSNP: rs786203924
rs786203924
2 2 47800888 frameshift variant AT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225403
rs863225403
1 2 47800788 frameshift variant TG/- del 0.700 1.000 1 2014 2014
dbSNP: rs863225408
rs863225408
2 2 47804998 frameshift variant ACTTG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs876660549
rs876660549
1 2 47799117 frameshift variant AA/- del 0.700 1.000 1 2012 2012
dbSNP: rs876661205
rs876661205
2 2 47799949 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs878853721
rs878853721
2 2 47800785 frameshift variant CT/- delins 0.700 1.000 1 2011 2011