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 0.010 1.000 1 2004 2004
dbSNP: rs1805054
rs1805054
8 0.769 0.143 1 19666020 synonymous variant C/T snp 0.15; 8.0E-06 0.17 0.010 1.000 1 2004 2004
dbSNP: rs80358259
rs80358259
9 0.801 0.286 18 23536736 missense variant A/G snp 2.0E-04 6.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs121912433
rs121912433
7 0.801 0.107 21 31663841 missense variant G/A snp 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912456
rs121912456
6 0.821 0.107 21 31659806 missense variant G/C snp 0.010 1.000 1 2005 2005
dbSNP: rs63750306
rs63750306
20 0.692 0.357 14 73173663 missense variant A/C,G,T snp 0.010 1.000 1 2005 2005
dbSNP: rs80265967
rs80265967
13 0.744 0.214 21 31667290 missense variant A/C snp 1.4E-03 2.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs28936379
rs28936379
9 0.821 0.107 1 226888977 missense variant A/C,G,T snp 4.0E-06 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs121434610
rs121434610
SMS
4 0.878 0.107 X 21967312 missense variant G/A snp 0.010 1.000 1 2008 2008
dbSNP: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs80356733
rs80356733
9 0.756 0.179 1 11022451 missense variant G/T snp 0.010 1.000 1 2008 2008
dbSNP: rs80356734
rs80356734
5 0.846 0.143 1 11022464 missense variant A/G snp 0.010 1.000 1 2008 2008
dbSNP: rs1018381
rs1018381
5 0.923 0.036 6 15656839 intron variant G/A snp 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1255998
rs1255998
5 0.821 0.143 14 64227153 3 prime UTR variant G/C,T snp 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030
5 0.878 0.143 14 64280452 intron variant A/G,T snp 0.60 0.010 1.000 1 2009 2009
dbSNP: rs1256065
rs1256065
1 1.000 0.036 14 64232214 3 prime UTR variant G/T snp 0.66 0.010 1.000 1 2009 2009
dbSNP: rs17601241
rs17601241
1 1.000 0.036 15 51215677 intron variant G/A snp 0.11 7.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs179363901
rs179363901
4 0.846 0.107 X 154097661 missense variant G/A snp 0.010 1.000 1 2009 2009
dbSNP: rs2344484
rs2344484
3 0.923 0.036 5 135540941 intergenic variant A/G snp 0.45 0.010 1.000 1 2009 2009
dbSNP: rs4646
rs4646
11 0.744 0.250 15 51210647 3 prime UTR variant A/C snp 0.67 0.72 0.010 1.000 1 2009 2009
dbSNP: rs728524
rs728524
1 1.000 0.036 6 151982302 intron variant A/G,T snp 9.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs8179176
rs8179176
1 1.000 0.036 6 151842199 intron variant C/A snp 0.010 1.000 1 2009 2009
dbSNP: rs9340799
rs9340799
37 0.611 0.607 6 151842246 intron variant A/G snp 0.31 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.020 1.000 2 2008 2010