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: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 19 1992 2016
dbSNP: rs28934574
rs28934574
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 1.000 18 1992 2016
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 14 1992 2016
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 1.000 14 1997 2014
dbSNP: rs397514495
rs397514495
4 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 1.000 14 1992 2015
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 12 1992 2013
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 12 2000 2016
dbSNP: rs587780070
rs587780070
24 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 10 2002 2018
dbSNP: rs879253894
rs879253894
2 1.000 0.120 17 7674876 missense variant G/A snv 4.0E-06 0.700 1.000 10 2003 2015
dbSNP: rs587782144
rs587782144
8 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 9 2003 2016
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 8 1995 2011
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.700 1.000 6 1997 2011
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 5 2000 2013
dbSNP: rs587783062
rs587783062
2 0.925 0.200 17 7676102 frameshift variant G/-;GG delins 0.700 1.000 5 1997 2013
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 1990 2011
dbSNP: rs786201057
rs786201057
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 4 2003 2016
dbSNP: rs587778720
rs587778720
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 3 2007 2011
dbSNP: rs1555526097
rs1555526097
2 0.925 0.120 17 7675113 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs201753350
rs201753350
1 1.000 0.120 17 7676387 missense variant C/A;T snv 2.5E-04; 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691039
rs1131691039
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs121912652
rs121912652
4 0.882 0.200 17 7674191 stop gained C/A;T snv 0.700 0
dbSNP: rs121912653
rs121912653
2 0.925 0.120 17 7674208 missense variant A/G snv 0.700 0
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0