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: rs148583959
rs148583959
1 19 3784376 missense variant G/A,T snp 4.7E-04; 4.2E-06 3.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs202064075
rs202064075
1 1 16048352 missense variant G/A snp 1.5E-04 6.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs2290532
rs2290532
1 3 31748090 missense variant T/C snp 0.48 0.37 0.010 1.000 1 2010 2010
dbSNP: rs368241098
rs368241098
1 8 86488598 stop gained C/A,T snp 8.0E-06 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs368537807
rs368537807
GSN
1 9 121318879 missense variant A/G snp 1.2E-05 9.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs372857241
rs372857241
1 6 1610586 stop gained C/G,T snp 1.8E-05 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs375218525
rs375218525
1 16 1792171 missense variant C/G,T snp 1.3E-05; 2.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs755535751
rs755535751
1 10 6025939 A/G snp 0.010 1.000 1 2011 2011
dbSNP: rs760289978
rs760289978
1 15 88652287 missense variant C/T snp 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs769238518
rs769238518
GSN
1 9 121318738 missense variant A/G snp 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs781388516
rs781388516
1 19 3784875 missense variant G/A snp 6.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs781764487
rs781764487
GSN
1 9 121318792 missense variant G/A snp 3.6E-05 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs11150556
rs11150556
2 16 83236936 intron variant T/C snp 0.51 0.010 1.000 1 2015 2015
dbSNP: rs2230804
rs2230804
2 10 100218126 missense variant C/T snp 0.47 0.57 0.010 1.000 1 2015 2015
dbSNP: rs397507548
rs397507548
2 1.000 0.143 12 112489093 missense variant A/C snp 0.010 1.000 1 2004 2004
dbSNP: rs397509345
rs397509345
2 1.000 0.143 12 112489093 missense variant AG/CC multinucleotide-polymorphism 0.010 1.000 1 2004 2004
dbSNP: rs402691
rs402691
2 19 53888383 intron variant T/C snp 0.37 0.010 1.000 1 2007 2007
dbSNP: rs454550
rs454550
2 1.000 0.071 8 81279417 intergenic variant G/C snp 2.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs771742823
rs771742823
2 1.000 0.071 3 132719800 stop gained G/A snp 1.2E-05 3.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs778899140
rs778899140
2 1.000 6 165450268 missense variant T/C snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs5742912
rs5742912
3 0.923 0.143 12 6349184 missense variant A/G snp 1.9E-02 1.5E-02 0.020 1.000 2 2009 2012
dbSNP: rs199840952
rs199840952
3 0.923 0.107 2 97732893 missense variant C/T snp 1.2E-05 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs2569191
rs2569191
3 1.000 0.071 5 140634318 intergenic variant C/A,T snp 0.58 0.010 1.000 1 2015 2015
dbSNP: rs363043
rs363043
3 1.000 0.071 20 10245498 intron variant C/T snp 0.28 0.010 1.000 1 2011 2011
dbSNP: rs869025224
rs869025224
3 0.923 0.107 2 97734709 missense variant G/C snp 0.010 1.000 1 2016 2016