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: rs121908121
rs121908121
2 0.925 0.120 2 218889990 missense variant G/A snv 7.6E-05 9.1E-05 0.800 1.000 9 2009 2017
dbSNP: rs121908120
rs121908120
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.800 1.000 8 2011 2017
dbSNP: rs141074983
rs141074983
1 1.000 0.080 2 218882384 missense variant C/A;T snv 4.0E-06; 8.6E-04 0.800 0
dbSNP: rs147680216
rs147680216
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.800 0
dbSNP: rs146460077
rs146460077
1 1.000 0.080 2 218882255 missense variant C/T snv 1.8E-03 9.9E-04 0.700 1.000 8 2011 2017
dbSNP: rs146902156
rs146902156
1 1.000 0.080 2 218890256 missense variant G/A snv 3.9E-04 2.9E-04 0.700 1.000 8 2011 2017
dbSNP: rs202024965
rs202024965
1 1.000 0.080 2 218890034 missense variant C/A;T snv 2.5E-04 1.0E-04 0.700 1.000 8 2011 2017
dbSNP: rs318240759
rs318240759
1 1.000 0.080 2 218882330 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 8 2011 2017
dbSNP: rs368280129
rs368280129
1 1.000 0.080 2 218890094 missense variant C/G;T snv 4.0E-06; 1.1E-04 0.700 1.000 8 2011 2017
dbSNP: rs543063101
rs543063101
1 1.000 0.080 2 218890040 missense variant G/A;C;T snv 5.6E-05; 2.8E-05 0.700 1.000 8 2011 2017
dbSNP: rs750190755
rs750190755
3 0.882 0.080 2 218893087 missense variant C/T snv 4.1E-05 7.0E-06 0.700 1.000 8 2011 2017
dbSNP: rs778752861
rs778752861
1 1.000 0.080 2 218892813 missense variant G/A snv 4.8E-06 0.700 1.000 8 2011 2017
dbSNP: rs121908119
rs121908119
10 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.700 1.000 7 2009 2015
dbSNP: rs372993798
rs372993798
3 0.882 0.200 2 218889998 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.700 1.000 4 2009 2014
dbSNP: rs762739726
rs762739726
3 0.882 0.200 2 218889989 stop gained C/T snv 1.6E-05 0.700 1.000 2 2010 2013
dbSNP: rs886039453
rs886039453
2 0.925 0.120 2 218890349 stop gained C/T snv 8.4E-06 2.1E-05 0.700 1.000 2 2011 2017
dbSNP: rs1060499588
rs1060499588
3 0.882 0.200 2 218890223 stop gained C/T snv 0.700 0
dbSNP: rs116998555
rs116998555
3 0.882 0.080 2 218890118 missense variant C/A;T snv 4.0E-06; 1.9E-03 0.700 0
dbSNP: rs1234227647
rs1234227647
1 1.000 0.080 2 218892848 missense variant G/T snv 1.4E-05 0.700 0
dbSNP: rs1245189224
rs1245189224
1 1.000 0.080 2 218882423 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1347556761
rs1347556761
1 1.000 0.080 2 218893152 missense variant C/T snv 4.7E-06 1.4E-05 0.700 0
dbSNP: rs149245953
rs149245953
1 1.000 0.080 2 218890274 missense variant C/A;T snv 2.0E-05; 4.1E-06; 6.1E-05 0.700 0
dbSNP: rs374910216
rs374910216
3 0.882 0.080 2 218882358 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs745513263
rs745513263
1 1.000 0.080 2 218892935 missense variant C/G;T snv 5.2E-04 0.700 0