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: 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: rs1555509622
rs1555509622
1 1.000 0.080 16 68737416 start lost A/G snv 0.700 1.000 5 1990 2017
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: rs1555515596
rs1555515596
1 1.000 0.080 16 68811682 splice acceptor variant A/G snv 0.700 1.000 7 2008 2012
dbSNP: rs1060501226
rs1060501226
1 1.000 0.080 16 68738295 splice acceptor variant A/G snv 0.700 1.000 3 1999 2007
dbSNP: rs113583899
rs113583899
2 1.000 0.080 16 68819279 splice acceptor variant G/C snv 7.0E-06 0.700 1.000 2 2004 2010
dbSNP: rs1385720097
rs1385720097
2 1.000 0.080 16 68828173 splice acceptor variant G/C;T 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: 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: rs876660393
rs876660393
2 1.000 0.080 16 68829652 splice acceptor variant A/G snv 0.700 1.000 2 2004 2010
dbSNP: rs1057517542
rs1057517542
2 1.000 0.080 16 68829653 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1555516520
rs1555516520
1 1.000 0.080 16 68819278 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555518210
rs1555518210
2 1.000 0.080 16 68833288 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555514492
rs1555514492
2 1.000 0.080 16 68801885 frameshift variant C/- delins 0.700 1.000 5 2004 2015
dbSNP: rs587783048
rs587783048
2 1.000 0.080 16 68829753 frameshift variant C/- delins 0.700 1.000 5 2007 2014
dbSNP: rs1555518221
rs1555518221
2 1.000 0.080 16 68833320 frameshift variant -/C delins 0.700 1.000 4 1999 2018
dbSNP: rs587781290
rs587781290
2 1.000 0.080 16 68808552 frameshift variant -/A delins 0.700 1.000 4 2007 2015
dbSNP: rs1060501215
rs1060501215
1 1.000 0.080 16 68801878 frameshift variant C/- delins 0.700 1.000 2 1999 2007
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: rs786203752
rs786203752
2 1.000 0.080 16 68829785 frameshift variant T/- delins 0.700 1.000 2 2013 2015
dbSNP: rs876659208
rs876659208
2 1.000 0.080 16 68815666 frameshift variant AG/- delins 0.700 1.000 2 2004 2012
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