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: rs730882025
rs730882025
21 0.724 0.360 17 7674885 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs863224451
rs863224451
20 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs864622237
rs864622237
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs876659675
rs876659675
8 0.807 0.280 17 7674199 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs942158624
rs942158624
19 0.724 0.320 17 7674948 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810
16 0.724 0.280 17 7674232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs764803020
rs764803020
5 0.851 0.040 17 7673750 frameshift variant -/TTTCCGCCGG delins 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs483352697
rs483352697
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.710 1.000 2 2012 2016
dbSNP: rs587778720
rs587778720
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs730882008
rs730882008
23 0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326
25 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912659
rs121912659
4 0.882 0.160 17 7673554 missense variant C/A;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs28934574
rs28934574
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587780070
rs587780070
24 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 5 2009 2018