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: rs587780784
rs587780784
4 1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06 0.700 1.000 12 2002 2015
dbSNP: rs587783048
rs587783048
2 1.000 0.080 16 68829753 frameshift variant C/- delins 0.700 1.000 10 2001 2016
dbSNP: rs121964877
rs121964877
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.700 1.000 8 1998 2012
dbSNP: rs587783050
rs587783050
2 1.000 0.080 16 68812263 splice region variant G/A;T snv 0.700 1.000 8 2006 2016
dbSNP: rs587780537
rs587780537
5 0.925 0.080 16 68810224 missense variant G/A snv 0.700 1.000 7 2006 2016
dbSNP: rs1060501244
rs1060501244
2 1.000 0.080 16 68828204 missense variant G/A;T snv 8.0E-06 0.700 1.000 6 2004 2015
dbSNP: rs267606712
rs267606712
2 1.000 0.080 16 68811859 missense variant G/A;T snv 0.700 1.000 6 1994 2013
dbSNP: rs587780787
rs587780787
2 1.000 0.080 16 68828296 stop gained G/T snv 4.0E-06 0.700 1.000 5 2004 2015
dbSNP: rs587783047
rs587783047
2 1.000 0.080 16 68801693 stop gained C/T snv 0.700 1.000 5 1998 2015
dbSNP: rs1131690818
rs1131690818
1 16 68819430 splice region variant G/A snv 0.700 1.000 4 2004 2013
dbSNP: rs1555516200
rs1555516200
2 1.000 0.080 16 68815760 splice donor variant -/T;TT delins 0.700 1.000 4 2008 2014
dbSNP: rs587780113
rs587780113
2 1.000 0.080 16 68815760 splice donor variant G/A;C;T snv 0.700 1.000 4 2002 2016
dbSNP: rs1555509623
rs1555509623
2 1.000 0.080 16 68737417 start lost T/C;G snv 0.700 1.000 3 2005 2011
dbSNP: rs587781276
rs587781276
2 1.000 0.080 16 68823524 stop gained TG/- delins 0.700 1.000 3 2004 2008
dbSNP: rs786202785
rs786202785
2 1.000 0.080 16 68828281 stop gained G/A;T snv 0.700 1.000 3 2009 2013
dbSNP: rs786202817
rs786202817
1 16 68812265 splice donor variant T/C snv 0.700 1.000 3 1999 2008
dbSNP: rs786203752
rs786203752
2 1.000 0.080 16 68829785 frameshift variant T/- delins 0.700 1.000 3 2007 2015
dbSNP: rs1555514492
rs1555514492
2 1.000 0.080 16 68801885 frameshift variant C/- delins 0.700 1.000 2 2004 2009
dbSNP: rs587781290
rs587781290
2 1.000 0.080 16 68808552 frameshift variant -/A delins 0.700 1.000 2 2007 2015
dbSNP: rs876660771
rs876660771
2 1.000 0.080 16 68812264 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 1999 2017
dbSNP: rs878854691
rs878854691
2 1.000 0.080 16 68737418 start lost G/A snv 0.700 1.000 2 2011 2017
dbSNP: rs1131690809
rs1131690809
1 16 68808764 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs1131690822
rs1131690822
1 16 68833339 frameshift variant -/G delins 0.700 1.000 1 2010 2010
dbSNP: rs1555515731
rs1555515731
4 0.882 0.160 16 68812189 frameshift variant T/- delins 0.700 1.000 1 2005 2005
dbSNP: rs1555518221
rs1555518221
2 1.000 0.080 16 68833320 frameshift variant -/C delins 0.700 1.000 1 2010 2010