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: rs387906843
rs387906843
3 0.925 0.200 17 35106406 stop gained G/A snv 4.0E-05 2.8E-05 0.700 1.000 8 2011 2018
dbSNP: rs587780104
rs587780104
4 0.882 0.200 17 35103298 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 7 2012 2017
dbSNP: rs370228071
rs370228071
6 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.700 1.000 5 2006 2017
dbSNP: rs753862052
rs753862052
2 1.000 17 35107439 frameshift variant -/AT delins 5.6E-05 7.0E-06 0.700 1.000 5 2011 2017
dbSNP: rs750621215
rs750621215
3 0.925 0.200 17 35101206 stop gained G/A snv 2.8E-05 2.1E-05 0.700 1.000 4 2012 2017
dbSNP: rs1555567610
rs1555567610
1 17 35103497 frameshift variant -/A delins 0.700 1.000 3 2012 2015
dbSNP: rs772306012
rs772306012
1 17 35119611 frameshift variant -/A delins 4.1E-06 0.700 1.000 3 2011 2016
dbSNP: rs1057521922
rs1057521922
2 1.000 17 35106990 stop gained G/A;C snv 4.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs137886232
rs137886232
2 1.000 17 35101347 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 8.0E-06 0.700 1.000 2 2011 2016
dbSNP: rs1403784434
rs1403784434
2 1.000 17 35101038 splice acceptor variant T/A snv 4.0E-06 0.700 1.000 2 2015 2018
dbSNP: rs1555570242
rs1555570242
1 17 35118500 splice donor variant C/T snv 0.700 1.000 2 2015 2016
dbSNP: rs561425038
rs561425038
3 0.925 0.200 17 35119613 start lost T/A;C;G snv 4.1E-06 0.700 1.000 2 2014 2016
dbSNP: rs587780105
rs587780105
3 0.925 0.200 17 35101356 frameshift variant G/- delins 4.0E-06 0.700 1.000 2 2011 2015
dbSNP: rs587782848
rs587782848
1 17 35107376 missense variant C/G;T snv 0.700 1.000 2 1982 2005
dbSNP: rs750219200
rs750219200
2 1.000 17 35101301 stop gained C/T snv 8.0E-06 7.0E-06 0.700 1.000 2 2011 2015
dbSNP: rs786202750
rs786202750
1 17 35106398 frameshift variant A/- del 0.700 1.000 2 2015 2015
dbSNP: rs1555567649
rs1555567649
1 17 35103546 splice acceptor variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs587781756
rs587781756
2 1.000 17 35107017 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs587782736
rs587782736
1 17 35119114 stop gained -/TT delins 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs730881935
rs730881935
3 0.925 0.200 17 35107105 frameshift variant T/- del 1.6E-05 0.700 1.000 1 2011 2011
dbSNP: rs771007945
rs771007945
2 1.000 17 35103466 stop gained G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs775365939
rs775365939
2 1.000 17 35103472 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs876659394
rs876659394
2 1.000 17 35107364 splice donor variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1064793952
rs1064793952
2 1.000 17 35119533 frameshift variant T/- del 0.700 0
dbSNP: rs1064795045
rs1064795045
2 1.000 17 35101326 frameshift variant CTCCCGC/- delins 0.700 0