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: 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: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.333 3 1999 2003
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: 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: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005
dbSNP: rs1806191
rs1806191
2 0.925 0.080 12 13563704 missense variant G/A;T snv 0.40; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.010 1.000 1 2005 2005
dbSNP: rs1824024
rs1824024
4 0.851 0.160 7 136958947 intron variant C/A snv 0.65 0.010 1.000 1 2005 2005
dbSNP: rs6356
rs6356
TH
5 0.827 0.240 11 2169721 missense variant C/T snv 0.43 0.32 0.010 1.000 1 2005 2005
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: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2006 2006
dbSNP: rs1805247
rs1805247
2 0.925 0.080 12 13563041 synonymous variant A/G snv 0.13 0.17 0.010 1.000 1 2006 2006
dbSNP: rs1805502
rs1805502
7 0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2006 2006
dbSNP: rs29230
rs29230
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.010 < 0.001 1 2006 2006
dbSNP: rs7254880
rs7254880
4 0.882 0.160 19 9298599 intron variant C/G snv 0.16 0.010 1.000 1 2006 2006
dbSNP: rs1017418
rs1017418
1 1.000 0.080 2 51821024 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1332184
rs1332184
1 1.000 0.080 9 21504204 intron variant A/C;G;T snv 0.010 1.000 1 2007 2007