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: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs863225045
rs863225045
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs1557196978
rs1557196978
8 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs149740908
rs149740908
2 0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs1057518871
rs1057518871
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs1064793880
rs1064793880
ELN
1 1.000 0.080 7 74046755 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs140119177
rs140119177
7 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 0.700 0
dbSNP: rs28939370
rs28939370
3 0.882 0.120 14 91887253 missense variant A/G snv 0.040 1.000 4 2002 2010
dbSNP: rs80338766
rs80338766
3 0.882 0.120 14 91887283 missense variant A/G snv 0.030 1.000 3 2006 2010
dbSNP: rs121434303
rs121434303
3 0.882 0.120 14 91870336 missense variant C/T snv 0.020 1.000 2 2006 2010
dbSNP: rs149396611
rs149396611
4 0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04 0.020 1.000 2 2006 2010
dbSNP: rs80338765
rs80338765
2 0.925 0.080 14 91891236 missense variant C/T snv 2.8E-04 1.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs759304648
rs759304648
GSN
9 0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs774842795
rs774842795
2 0.925 0.120 1 247444692 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121918374
rs121918374
4 0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 0.700 1.000 4 2009 2015
dbSNP: rs121918376
rs121918376
3 0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06 0.020 1.000 2 2017 2017
dbSNP: rs121918375
rs121918375
2 0.925 0.080 17 81934670 missense variant C/A;T snv 1.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs144346996
rs144346996
3 0.925 0.080 17 81934652 splice donor variant C/G snv 2.9E-05 7.7E-05 0.700 1.000 1 2009 2009
dbSNP: rs139751598
rs139751598
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0