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: rs587782529
rs587782529
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs876659384
rs876659384
7 0.851 0.240 17 7673552 stop gained C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.921 38 2005 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.909 33 2005 2019
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.909 33 2005 2019
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.933 15 2005 2018
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.100 1.000 12 2005 2019
dbSNP: rs730881997
rs730881997
4 0.925 0.200 17 7675999 missense variant A/C;T snv 8.0E-06 0.020 0.500 2 2006 2014
dbSNP: rs587778720
rs587778720
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs758781593
rs758781593
2 17 7675204 missense variant T/A;C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.030 0.667 3 2007 2019
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 < 0.001 1 2008 2008
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.040 1.000 4 2010 2019
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.030 1.000 3 2010 2019
dbSNP: rs563378859
rs563378859
8 0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs876658468
rs876658468
24 0.689 0.440 17 7674954 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs28934574
rs28934574
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2012 2014
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs866419664
rs866419664
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2012 2012
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.060 1.000 6 2013 2019
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.030 1.000 3 2013 2016
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs17880560
rs17880560
2 17 7668169 intron variant -/TGGCCG delins 0.010 1.000 1 2014 2014
dbSNP: rs867114783
rs867114783
6 17 7675109 missense variant T/C snv 0.010 1.000 1 2014 2014