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: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.030 0.667 3 1996 1998
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.893 28 1998 2019
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.080 1.000 8 1998 2019
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.333 3 1999 2003
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.040 1.000 4 2001 2008
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.040 0.500 4 2001 2013
dbSNP: rs1805002
rs1805002
4 0.882 0.160 11 6269890 missense variant G/A snv 4.4E-02 5.1E-02 0.010 1.000 1 2001 2001
dbSNP: rs780312650
rs780312650
1 1.000 0.080 11 1558231 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.900 1.000 19 2004 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.070 1.000 7 2004 2015
dbSNP: rs324650
rs324650
5 0.827 0.080 7 137008914 intron variant T/A snv 0.55 0.020 1.000 2 2004 2011
dbSNP: rs2061174
rs2061174
3 0.882 0.080 7 136976653 intron variant G/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs2239670
rs2239670
1 1.000 0.080 5 71719676 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs34315573
rs34315573
1 1.000 0.080 12 13866194 synonymous variant C/T snv 4.9E-02 3.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs7301328
rs7301328
3 0.882 0.120 12 13865843 synonymous variant G/C;T snv 0.41; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs75012854
rs75012854
5 0.882 0.200 22 19962641 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs752949
rs752949
3 0.925 0.160 11 35306201 synonymous variant C/T snv 0.23 0.22 0.010 1.000 1 2004 2004
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs774847933
rs774847933
5 0.882 0.200 22 19962797 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.900 1.000 11 2005 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.900 10 2005 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.875 8 2005 2018
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.030 0.667 3 2005 2011
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.020 1.000 2 2005 2006
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2005 2018