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: rs141787524
rs141787524
1 1.000 0.080 1 27358259 missense variant G/A;T snv 5.0E-03 4.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs63750447
rs63750447
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs587780537
rs587780537
5 0.925 0.080 16 68810224 missense variant G/A snv 0.700 1.000 12 2006 2019
dbSNP: rs587783050
rs587783050
2 1.000 0.080 16 68812263 splice region variant G/A;T snv 0.700 1.000 11 2006 2016
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 11 1999 2018
dbSNP: rs587780113
rs587780113
2 1.000 0.080 16 68815760 splice donor variant G/A;C;T snv 0.700 1.000 10 2002 2016
dbSNP: rs587780787
rs587780787
2 1.000 0.080 16 68828296 stop gained G/T snv 4.0E-06 0.700 1.000 9 2004 2014
dbSNP: rs1064795267
rs1064795267
1 1.000 0.080 16 68815760 splice donor variant G/- del 0.700 1.000 8 2002 2016
dbSNP: rs121964877
rs121964877
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.700 1.000 8 1998 2015
dbSNP: rs1555515596
rs1555515596
1 1.000 0.080 16 68811682 splice acceptor variant A/G snv 0.700 1.000 7 2008 2012
dbSNP: rs878854691
rs878854691
2 1.000 0.080 16 68737418 start lost G/A snv 0.700 1.000 7 1990 2017
dbSNP: rs1555509623
rs1555509623
2 1.000 0.080 16 68737417 start lost T/C;G snv 0.700 1.000 6 1990 2017
dbSNP: rs587781276
rs587781276
2 1.000 0.080 16 68823524 stop gained TG/- delins 0.700 1.000 6 2004 2015
dbSNP: rs1064794231
rs1064794231
1 1.000 0.080 16 68810240 missense variant A/G snv 7.0E-06 0.700 1.000 5 2007 2015
dbSNP: rs1555509622
rs1555509622
1 1.000 0.080 16 68737416 start lost A/G snv 0.700 1.000 5 1990 2017
dbSNP: rs1555514492
rs1555514492
2 1.000 0.080 16 68801885 frameshift variant C/- delins 0.700 1.000 5 2004 2015
dbSNP: rs267606712
rs267606712
2 1.000 0.080 16 68811859 missense variant G/A;T snv 0.700 1.000 5 1994 2016
dbSNP: rs587776398
rs587776398
1 1.000 0.080 16 68812149 stop gained T/C;G snv 3.6E-05 0.700 1.000 5 2010 2018
dbSNP: rs587783048
rs587783048
2 1.000 0.080 16 68829753 frameshift variant C/- delins 0.700 1.000 5 2007 2014
dbSNP: rs878854697
rs878854697
2 1.000 0.080 16 68810342 splice donor variant G/A;T snv 0.700 1.000 5 2004 2015
dbSNP: rs1060501244
rs1060501244
2 1.000 0.080 16 68828204 missense variant G/A;T snv 8.0E-06 0.700 1.000 4 2004 2015
dbSNP: rs1555516200
rs1555516200
2 1.000 0.080 16 68815760 splice donor variant -/T;TT delins 0.700 1.000 4 2008 2014
dbSNP: rs1555518221
rs1555518221
2 1.000 0.080 16 68833320 frameshift variant -/C delins 0.700 1.000 4 1999 2018
dbSNP: rs587780784
rs587780784
4 1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06 0.710 1.000 4 2005 2013