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: 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: rs587780073
rs587780073
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs587781991
rs587781991
17 0.724 0.240 17 7675208 missense variant C/A;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: rs876660754
rs876660754
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691023
rs1131691023
2 1.000 0.080 17 7675142 missense variant A/G;T snv 0.700 0
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2003 2016
dbSNP: rs1060501205
rs1060501205
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2008 2008
dbSNP: rs121912667
rs121912667
4 0.851 0.200 17 7673766 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs375338359
rs375338359
4 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587782529
rs587782529
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs63749993
rs63749993
8 0.882 0.200 2 47476424 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs6471
rs6471
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 1998 1998
dbSNP: rs730882029
rs730882029
4 0.882 0.200 17 7670685 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs751477326
rs751477326
3 1.000 0.080 17 7675082 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs763868966
rs763868966
4 1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs786205050
rs786205050
7 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016