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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.850 20 2000 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.875 16 2000 2018
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 0.667 3 1993 2019
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2017
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2012 2016
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 1993 2019
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: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs1019340046
rs1019340046
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
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: rs1057519984
rs1057519984
3 0.882 0.080 17 7673777 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1131691022
rs1131691022
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 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: 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: rs1429743956
rs1429743956
3 0.882 0.080 17 7674906 stop gained T/A;C snv 0.010 1.000 1 2006 2006
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: rs2078486
rs2078486
3 0.882 0.080 17 7679765 intron variant G/A;C snv 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: 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: 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: 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: 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