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: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs786205050
rs786205050
7 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs6471
rs6471
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 1998 1998
dbSNP: rs121913399
rs121913399
13 0.724 0.200 3 41224612 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs28931589
rs28931589
17 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913413
rs121913413
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913407
rs121913407
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs763868966
rs763868966
4 1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs63749993
rs63749993
8 0.882 0.200 2 47476424 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs11554273
rs11554273
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs375338359
rs375338359
4 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs730882029
rs730882029
4 0.882 0.200 17 7670685 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2003 2016
dbSNP: rs587782529
rs587782529
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs1060501205
rs1060501205
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2008 2008