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
25 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.810 1.000 35 1990 2017
dbSNP: rs587782144
rs587782144
4 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.810 1.000 26 1990 2017
dbSNP: rs121912666
rs121912666
24 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.820 1.000 25 1990 2018
dbSNP: rs121912651
rs121912651
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.820 1.000 24 1990 2015
dbSNP: rs28934576
rs28934576
39 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.820 1.000 20 1990 2018
dbSNP: rs138729528
rs138729528
25 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 0.800 1.000 19 1990 2015
dbSNP: rs121912655
rs121912655
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.700 1.000 18 1989 2017
dbSNP: rs28934578
rs28934578
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.820 1.000 18 1990 2017
dbSNP: rs730882005
rs730882005
20 0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 0.800 1.000 17 1994 2016
dbSNP: rs587782596
rs587782596
2 0.807 0.200 17 7675071 missense variant G/A;T snv 0.800 1.000 16 1990 2017
dbSNP: rs587782705
rs587782705
6 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.800 1.000 16 1990 2017
dbSNP: rs397514495
rs397514495
4 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.800 1.000 15 1990 2016
dbSNP: rs587778720
rs587778720
25 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.810 1.000 15 1990 2015
dbSNP: rs121912664
rs121912664
7 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.900 0.977 14 1990 2020
dbSNP: rs11540652
rs11540652
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.800 1.000 13 1991 2015
dbSNP: rs121913343
rs121913343
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.800 1.000 13 1988 2014
dbSNP: rs121912656
rs121912656
20 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.800 1.000 12 1990 2014
dbSNP: rs11540654
rs11540654
3 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 11 1997 2014
dbSNP: rs55863639
rs55863639
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 11 1992 2016
dbSNP: rs730882029
rs730882029
3 0.882 0.200 17 7670685 stop gained G/A snv 0.700 1.000 11 2006 2016
dbSNP: rs397516436
rs397516436
26 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 10 1994 2012
dbSNP: rs587781525
rs587781525
20 0.689 0.480 17 7673778 missense variant T/A;C;G snv 0.700 1.000 10 1999 2015
dbSNP: rs587782529
rs587782529
3 0.851 0.200 17 7670700 missense variant G/A;C snv 0.810 1.000 10 1990 2014
dbSNP: rs786201838
rs786201838
23 0.683 0.440 17 7674953 missense variant T/A;C;G snv 0.800 1.000 10 1990 2017
dbSNP: rs1057519989
rs1057519989
15 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 9 2003 2016