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: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.060 1.000 6 2007 2013
dbSNP: rs75932628
rs75932628
22 0.679 0.250 6 41161514 missense variant C/A,T snp 6.8E-05; 2.6E-03 1.5E-03 0.050 1.000 5 2013 2016
dbSNP: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.030 1.000 3 2010 2014
dbSNP: rs104893768
rs104893768
RHO
7 0.846 0.071 3 129528801 missense variant C/A snp 0.020 1.000 2 2002 2014
dbSNP: rs104893877
rs104893877
31 0.679 0.250 4 89828149 missense variant C/T snp 0.020 1.000 2 2002 2003
dbSNP: rs104893878
rs104893878
17 0.744 0.179 4 89835580 missense variant C/G snp 0.020 0.500 2 2002 2003
dbSNP: rs143624519
rs143624519
12 0.756 0.250 17 45991484 missense variant G/A,T snp 1.5E-03; 1.2E-05 1.5E-03 0.020 0.500 2 2013 2014
dbSNP: rs34637584
rs34637584
47 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2006 2014
dbSNP: rs387907043
rs387907043
3 0.923 0.107 20 63930873 missense variant T/A,G snp 4.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs104893922
rs104893922
3 0.923 0.071 5 70946157 stop lost A/G snp 0.010 1.000 1 2001 2001
dbSNP: rs11550199
rs11550199
GSN
5 0.846 0.143 9 121312363 missense variant A/G snp 3.2E-03 1.2E-02 0.010 1.000 1 2003 2003
dbSNP: rs119467003
rs119467003
4 0.878 0.071 14 89993420 missense variant A/G snp 0.010 1.000 1 2007 2007
dbSNP: rs121909329
rs121909329
VCP
10 0.801 0.179 9 35065363 missense variant C/G,T snp 0.010 1.000 1 2013 2013
dbSNP: rs121912432
rs121912432
5 0.846 0.071 21 31663832 missense variant C/G snp 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs143061887
rs143061887
3 0.923 0.071 1 226881960 missense variant C/T snp 1.6E-05 6.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs17125721
rs17125721
9 0.801 0.107 14 73206470 missense variant A/G snp 1.5E-02 1.7E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs1799990
rs1799990
19 0.715 0.286 20 4699605 missense variant A/G snp 0.31 0.32 0.010 < 0.001 1 2010 2010
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs1990622
rs1990622
9 0.769 0.143 7 12244161 regulatory region variant A/G snp 0.50 0.010 1.000 1 2014 2014
dbSNP: rs199759305
rs199759305
3 0.923 0.071 14 73148066 missense variant T/C,G snp 4.0E-06; 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs267606900
rs267606900
3 0.923 0.250 10 30313926 missense variant T/C snp 0.010 1.000 1 2016 2016
dbSNP: rs35801418
rs35801418
9 0.784 0.143 12 40321114 missense variant A/G snp 0.010 1.000 1 2007 2007
dbSNP: rs431905511
rs431905511
8 0.821 0.107 4 89828154 missense variant C/T snp 0.010 1.000 1 2016 2016
dbSNP: rs5848
rs5848
13 0.724 0.107 17 44352876 3 prime UTR variant C/T snp 0.42 0.010 1.000 1 2016 2016
dbSNP: rs587778556
rs587778556
2 2 177231705 missense variant G/A snp 3.2E-05 3.2E-05 0.010 1.000 1 2015 2015