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: rs1019340046
rs1019340046
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs1057519984
rs1057519984
3 0.882 0.080 17 7673777 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1429743956
rs1429743956
3 0.882 0.080 17 7674906 stop gained T/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs2078486
rs2078486
3 0.882 0.080 17 7679765 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs375573770
rs375573770
3 0.882 0.080 17 7670682 missense variant C/G snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs587782769
rs587782769
3 0.882 0.080 17 7676155 missense variant G/A;C;T snv 1.6E-05; 1.2E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs9895829
rs9895829
6 0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02 0.010 1.000 1 2007 2007
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 2012 2012
dbSNP: rs1131691022
rs1131691022
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2007 2007
dbSNP: rs1321845532
rs1321845532
4 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013
dbSNP: rs267605076
rs267605076
6 0.851 0.160 17 7674859 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
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 2007 2007
dbSNP: rs2909430
rs2909430
5 0.827 0.200 17 7675327 5 prime UTR variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs587782596
rs587782596
7 0.807 0.200 17 7675071 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 1.000 1 2014 2014
dbSNP: rs587781991
rs587781991
17 0.724 0.240 17 7675208 missense variant C/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs483352697
rs483352697
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020