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: rs1555515214
rs1555515214
2 1.000 0.080 16 68808493 frameshift variant AAGA/- del 0.700 0
dbSNP: rs1567504575
rs1567504575
1 1.000 0.080 16 68808493 stop gained A/T snv 0.700 0
dbSNP: rs1555515215
rs1555515215
1 1.000 0.080 16 68808503 stop gained G/A snv 0.700 0
dbSNP: rs876661107
rs876661107
1 1.000 0.080 16 68808504 stop gained G/A snv 0.700 0
dbSNP: rs864622655
rs864622655
1 1.000 0.080 16 68808536 frameshift variant A/- delins 0.700 0
dbSNP: rs587781290
rs587781290
2 1.000 0.080 16 68808552 frameshift variant -/A delins 0.700 1.000 4 2007 2015
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: 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: rs1555515284
rs1555515284
1 1.000 0.080 16 68808816 frameshift variant C/- delins 0.700 0
dbSNP: rs1567504977
rs1567504977
1 1.000 0.080 16 68808849 splice donor variant G/A snv 0.700 1.000 2 2004 2010
dbSNP: rs1555515297
rs1555515297
1 1.000 0.080 16 68808850 splice donor variant T/C snv 0.700 0
dbSNP: rs1060501214
rs1060501214
1 1.000 0.080 16 68810201 frameshift variant TC/- delins 0.700 0
dbSNP: rs730881663
rs730881663
1 1.000 0.080 16 68810216 stop gained C/A snv 0.700 0
dbSNP: rs587780537
rs587780537
3 0.925 0.080 16 68810224 missense variant G/A snv 0.700 1.000 12 2006 2019
dbSNP: rs1131690819
rs1131690819
2 1.000 0.080 16 68810229 frameshift variant T/- del 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: rs121964873
rs121964873
2 0.925 0.080 16 68810290 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs876659503
rs876659503
1 1.000 0.080 16 68810302 stop gained G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs878854697
rs878854697
2 1.000 0.080 16 68810342 splice donor variant G/A;T snv 0.700 1.000 5 2004 2015
dbSNP: rs1567506511
rs1567506511
1 1.000 0.080 16 68811672 splice acceptor variant TCTTCCAGGAAC/- delins 0.700 1.000 2 2004 2010
dbSNP: rs1555515596
rs1555515596
1 1.000 0.080 16 68811682 splice acceptor variant A/G snv 0.700 1.000 7 2008 2012
dbSNP: rs587780784
rs587780784
2 1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06 0.710 1.000 3 2005 2013
dbSNP: rs267606712
rs267606712
2 1.000 0.080 16 68811859 missense variant G/A;T snv 0.700 1.000 5 1994 2016
dbSNP: rs1060501237
rs1060501237
1 1.000 0.080 16 68811861 splice donor variant T/C snv 0.700 1.000 2 2004 2010
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