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: rs760714959
rs760714959
2 0.925 0.080 10 104037688 synonymous variant G/A snv 4.0E-06 1.4E-05 0.020 1.000 2 2016 2018
dbSNP: rs1411887514
rs1411887514
2 0.925 0.080 17 82766304 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1483153444
rs1483153444
GSN
1 1.000 0.080 9 121302147 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1554579819
rs1554579819
2 0.925 0.080 8 101492922 intron variant A/- del 0.700 1.000 1 2018 2018
dbSNP: rs1554579832
rs1554579832
1 1.000 0.080 8 101493045 intron variant T/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1554579878
rs1554579878
2 0.925 0.080 8 101493333 intron variant G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs2292245
rs2292245
2 0.925 0.080 3 62203515 missense variant G/A snv 0.19 0.16 0.010 1.000 1 2014 2014
dbSNP: rs371811409
rs371811409
2 0.925 0.080 1 11285832 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs72547544
rs72547544
2 0.925 0.080 16 75479500 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs747805751
rs747805751
GSN
1 1.000 0.080 9 121310774 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs757933370
rs757933370
2 0.925 0.080 5 136046373 missense variant G/A;T snv 1.5E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs763075517
rs763075517
3 0.882 0.080 16 75479311 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs7640737
rs7640737
2 0.925 0.080 3 62047679 intron variant C/T snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs80358192
rs80358192
6 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs766305306
rs766305306
1 1.000 0.080 10 31520904 frameshift variant -/G delins 0.700 0
dbSNP: rs121909212
rs121909212
6 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.700 1.000 7 1998 2016
dbSNP: rs121909209
rs121909209
9 0.763 0.160 5 136056781 missense variant G/A snv 0.040 1.000 4 2000 2007
dbSNP: rs201928238
rs201928238
CA2
4 0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs709932
rs709932
3 0.882 0.160 14 94382864 missense variant C/T snv 0.16 0.12 0.010 1.000 1 2009 2009
dbSNP: rs756283153
rs756283153
AGT
3 0.882 0.160 1 230710465 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121909211
rs121909211
15 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.100 1.000 13 1998 2019
dbSNP: rs121909210
rs121909210
15 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.070 1.000 7 1998 2019
dbSNP: rs1052006472
rs1052006472
5 0.827 0.200 5 136060907 missense variant A/G snv 0.020 1.000 2 2002 2010
dbSNP: rs121909215
rs121909215
7 0.790 0.200 5 136060898 missense variant G/A snv 0.020 1.000 2 2005 2009
dbSNP: rs121909208
rs121909208
13 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.070 1.000 7 2000 2015