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: rs121964875
rs121964875
1 1.000 0.080 16 68738307 stop gained G/A snv 0.700 1.000 3 1999 2015
dbSNP: rs1555518211
rs1555518211
2 1.000 0.080 16 68833296 stop gained A/G;T snv 0.700 1.000 3 1999 2013
dbSNP: rs587783047
rs587783047
2 1.000 0.080 16 68801693 stop gained C/T snv 0.700 1.000 3 1998 2014
dbSNP: rs886041161
rs886041161
2 1.000 0.080 16 68819426 splice donor variant G/A;C snv 0.700 1.000 3 2003 2010
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: rs1131690808
rs1131690808
2 1.000 0.080 16 68808568 splice donor variant G/A;T snv 0.700 1.000 2 2004 2010
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: rs121964876
rs121964876
1 1.000 0.080 16 68738318 stop gained G/T snv 0.700 1.000 2 1999 2000
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: 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: rs786203576
rs786203576
2 1.000 0.080 16 68738308 stop gained G/A snv 0.700 1.000 2 1999 2018
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: rs876660393
rs876660393
2 1.000 0.080 16 68829652 splice acceptor variant A/G snv 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: rs1131690815
rs1131690815
2 1.000 0.080 16 68808483 frameshift variant CAGAAGA/-;CAGAAGACAGAAGA 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