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: rs1177881399
rs1177881399
2 0.925 0.080 17 7673557 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs28934574
rs28934574
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs375275361
rs375275361
5 0.827 0.120 17 7675054 missense variant A/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs587781858
rs587781858
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.750 1.000 5 2011 2018
dbSNP: rs587782144
rs587782144
8 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs779196500
rs779196500
5 0.882 0.120 17 7675187 missense variant G/A snv 4.0E-06 0.020 1.000 2 2006 2008
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 4 2011 2020
dbSNP: rs587782646
rs587782646
2 0.925 0.080 17 7676576 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1625895
rs1625895
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.020 1.000 2 2008 2011
dbSNP: rs1288373809
rs1288373809
5 0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1064794312
rs1064794312
2 0.925 0.080 17 7674278 missense variant A/G snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs587782705
rs587782705
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 2 2012 2015
dbSNP: rs372201428
rs372201428
3 0.882 0.120 17 7676181 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 2008 2010
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 2011 2011
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.080 1.000 8 2007 2016
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2008 2008
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs1800372
rs1800372
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.020 0.500 2 2014 2017
dbSNP: rs2287499
rs2287499
4 0.925 0.080 17 7688850 missense variant C/G;T snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 48 2003 2020