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: rs1064795267
rs1064795267
1 1.000 0.080 16 68815760 splice donor variant G/- del 0.700 1.000 8 2002 2016
dbSNP: rs1555515596
rs1555515596
1 1.000 0.080 16 68811682 splice acceptor variant A/G snv 0.700 1.000 7 2008 2012
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: 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: rs1060501226
rs1060501226
1 1.000 0.080 16 68738295 splice acceptor variant A/G snv 0.700 1.000 3 1999 2007
dbSNP: rs121964875
rs121964875
1 1.000 0.080 16 68738307 stop gained G/A snv 0.700 1.000 3 1999 2015
dbSNP: rs1060501215
rs1060501215
1 1.000 0.080 16 68801878 frameshift variant C/- delins 0.700 1.000 2 1999 2007
dbSNP: rs1060501237
rs1060501237
1 1.000 0.080 16 68811861 splice donor variant T/C snv 0.700 1.000 2 2004 2010
dbSNP: rs121964876
rs121964876
1 1.000 0.080 16 68738318 stop gained G/T snv 0.700 1.000 2 1999 2000
dbSNP: rs1440280370
rs1440280370
1 1.000 0.080 16 68737464 splice donor variant G/A;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1555514429
rs1555514429
1 1.000 0.080 16 68801766 frameshift variant G/- delins 0.700 1.000 2 2004 2010
dbSNP: rs1555517680
rs1555517680
1 1.000 0.080 16 68828284 frameshift variant G/- delins 0.700 1.000 2 2005 2011
dbSNP: rs1567504977
rs1567504977
1 1.000 0.080 16 68808849 splice donor variant G/A snv 0.700 1.000 2 2004 2010
dbSNP: rs1567506511
rs1567506511
1 1.000 0.080 16 68811672 splice acceptor variant TCTTCCAGGAAC/- delins 0.700 1.000 2 2004 2010
dbSNP: rs35572355
rs35572355
1 1.000 0.080 16 68833344 missense variant G/A;C snv 1.7E-04; 4.0E-06 0.700 1.000 2 1999 2002
dbSNP: rs771085839
rs771085839
1 1.000 0.080 16 68808692 splice acceptor variant G/C snv 4.0E-06 0.700 1.000 2 2004 2010
dbSNP: rs886037822
rs886037822
1 1.000 0.080 16 68813392 frameshift variant C/- delins 0.700 1.000 2 2015 2016
dbSNP: rs1060501224
rs1060501224
1 1.000 0.080 16 68822180 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1375617541
rs1375617541
1 1.000 0.080 16 68829739 frameshift variant -/C delins 4.0E-06 0.700 1.000 1 1998 1998
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: rs1555509636
rs1555509636
1 1.000 0.080 16 68737427 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1555517136
rs1555517136
1 1.000 0.080 16 68823562 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs1555517889
rs1555517889
1 1.000 0.080 16 68829743 frameshift variant GGTATCTTCCCCGCCCTGCC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1567507138
rs1567507138
1 1.000 0.080 16 68812233 frameshift variant C/- del 0.700 1.000 1 2007 2007