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: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1057517542
rs1057517542
2 1.000 0.080 16 68829653 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1060501214
rs1060501214
1 1.000 0.080 16 68810201 frameshift variant TC/- delins 0.700 0
dbSNP: rs1060501215
rs1060501215
1 1.000 0.080 16 68801878 frameshift variant C/- delins 0.700 1.000 2 1999 2007
dbSNP: rs1060501224
rs1060501224
1 1.000 0.080 16 68822180 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1060501226
rs1060501226
1 1.000 0.080 16 68738295 splice acceptor variant A/G snv 0.700 1.000 3 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: 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: rs1060501248
rs1060501248
3 1.000 0.080 16 68829679 frameshift variant G/- delins 0.700 0
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: rs1064795267
rs1064795267
1 1.000 0.080 16 68815760 splice donor variant G/- del 0.700 1.000 8 2002 2016
dbSNP: rs1064795703
rs1064795703
1 1.000 0.080 16 68801820 frameshift variant C/- delins 0.700 0
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: rs1131690810
rs1131690810
2 1.000 0.080 16 68815725 stop gained C/T snv 0.700 0
dbSNP: rs1131690815
rs1131690815
2 1.000 0.080 16 68808483 frameshift variant CAGAAGA/-;CAGAAGACAGAAGA delins 0.700 1.000 1 2015 2015
dbSNP: rs1131690819
rs1131690819
2 1.000 0.080 16 68810229 frameshift variant T/- del 0.700 0
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: rs121964873
rs121964873
2 0.925 0.080 16 68810290 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs121964874
rs121964874
1 1.000 0.080 16 68823557 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121964875
rs121964875
1 1.000 0.080 16 68738307 stop gained G/A snv 0.700 1.000 3 1999 2015
dbSNP: rs121964876
rs121964876
1 1.000 0.080 16 68738318 stop gained G/T snv 0.700 1.000 2 1999 2000
dbSNP: rs121964877
rs121964877
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.700 1.000 8 1998 2015
dbSNP: rs121964878
rs121964878
1 1.000 0.080 16 68822190 missense variant C/T snv 0.700 0
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: rs1385720097
rs1385720097
2 1.000 0.080 16 68828173 splice acceptor variant G/C;T snv 0.700 1.000 2 2004 2010