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
2 1.000 0.071 16 68811854 stop gained C/G,T snp 1.6E-05; 8.0E-06 3.2E-05 0.710 1.000 2 2014 2017
dbSNP: rs587780113
rs587780113
2 1.000 0.071 16 68815760 splice donor variant G/A,C,T snp 0.700 11 2002 2017
dbSNP: rs587783050
rs587783050
2 1.000 0.071 16 68812263 splice region variant G/A snp 0.700 11 2006 2017
dbSNP: rs587780787
rs587780787
2 1.000 0.071 16 68828296 stop gained G/T snp 4.0E-06 0.700 10 2004 2017
dbSNP: rs1064795267
rs1064795267
1 1.000 0.071 16 68815760 splice donor variant CG/C in-del 0.700 9 2002 2017
dbSNP: rs267606712
rs267606712
2 1.000 0.071 16 68811859 missense variant G/A,T snp 0.700 7 1964 2017
dbSNP: rs587781276
rs587781276
2 1.000 0.071 16 68823526 stop gained GTG/G in-del 0.700 7 2004 2017
dbSNP: rs121964877
rs121964877
5 0.846 0.143 16 68822081 stop gained C/G,T snp 0.700 6 1998 2017
dbSNP: rs587783048
rs587783048
2 1.000 0.071 16 68829756 frameshift variant CC/C in-del 0.700 5 2007 2017
dbSNP: rs587783047
rs587783047
2 1.000 0.071 16 68801693 stop gained C/T snp 0.700 4 1998 2017
dbSNP: rs1060501215
rs1060501215
1 1.000 0.071 16 68801883 frameshift variant CC/C in-del 0.700 3 1999 2017
dbSNP: rs1131690808
rs1131690808
2 1.000 0.071 16 68808568 splice donor variant G/A snp 0.700 3 2004 2017
dbSNP: rs113583899
rs113583899
2 1.000 0.071 16 68819279 splice acceptor variant G/C snp 0.700 3 2004 2017
dbSNP: rs771085839
rs771085839
1 1.000 0.071 16 68808692 splice acceptor variant G/C snp 4.0E-06 0.700 3 2004 2017
dbSNP: rs786203752
rs786203752
2 1.000 0.071 16 68829788 frameshift variant TT/T in-del 0.700 3 2013 2017
dbSNP: rs876660393
rs876660393
2 1.000 0.071 16 68829652 splice acceptor variant A/G snp 0.700 3 2004 2017
dbSNP: rs878854697
rs878854697
1 1.000 0.071 16 68810342 splice donor variant G/T snp 0.700 3 2004 2017
dbSNP: rs1060501224
rs1060501224
1 1.000 0.071 16 68822184 frameshift variant CAC/C in-del 0.700 2 2016 2017
dbSNP: rs121964876
rs121964876
1 1.000 0.071 16 68738318 stop gained G/T snp 0.700 2 1999 2000
dbSNP: rs121964878
rs121964878
1 1.000 0.071 16 68822190 missense variant C/T snp 0.700 2 2003 2017
dbSNP: rs863224505
rs863224505
2 1.000 0.071 16 68812189 frameshift variant GT/G in-del 0.700 2 2015 2017
dbSNP: rs876658261
rs876658261
2 1.000 0.071 16 68815682 frameshift variant CCGAGGAC/C in-del 0.700 2 1999 2017
dbSNP: rs886037822
rs886037822
1 1.000 0.071 16 68813395 frameshift variant CC/C in-del 0.700 2 2015 2016
dbSNP: rs971882211
rs971882211
1 1.000 0.071 16 68823404 missense variant G/C snp 4.0E-06 0.700 2 2014 2017
dbSNP: rs1060501214
rs1060501214
1 1.000 0.071 16 68810205 frameshift variant CTC/C in-del 0.700 1 2017 2017