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: rs137852929
rs137852929
3 0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05 0.700 1.000 3 2005 2014
dbSNP: rs375082054
rs375082054
1 1.000 17 17216395 missense variant G/A;C;T snv 6.9E-05; 8.2E-06; 1.6E-05 0.700 1.000 3 2005 2008
dbSNP: rs80338682
rs80338682
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 2 2002 2005
dbSNP: rs398124542
rs398124542
3 0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05 0.700 1.000 1 2005 2005
dbSNP: rs1567807517
rs1567807517
1 1.000 17 17215183 splice donor variant A/G snv 0.700 0
dbSNP: rs368778627
rs368778627
3 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs750146811
rs750146811
3 0.925 0.080 17 17227900 frameshift variant CGAC/- delins 1.2E-05 0.700 0
dbSNP: rs758175953
rs758175953
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0
dbSNP: rs786203218
rs786203218
3 0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs886037608
rs886037608
1 1.000 17 17214987 frameshift variant TCCA/- delins 0.700 0
dbSNP: rs886037609
rs886037609
1 1.000 17 17224136 frameshift variant G/- delins 0.700 0
dbSNP: rs886037610
rs886037610
1 1.000 17 17217070 frameshift variant GAAGTACTTCAAAAGCTGAC/- delins 0.700 0
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs4733649
rs4733649
1 1.000 8 128785868 intron variant C/A snv 0.68 0.010 1.000 1 2016 2016