Source: ALL
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: rs444762
rs444762
2 0.925 0.120 10 8061297 intron variant A/C snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs2853209
rs2853209
5 0.827 0.200 20 3670825 intron variant T/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs5743399
rs5743399
2 0.925 0.120 8 6880123 intron variant G/A snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs5743409
rs5743409
2 0.925 0.120 8 6879098 intron variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2009 2009
dbSNP: rs7216389
rs7216389
14 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.010 1.000 1 2009 2009
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs10489854
rs10489854
1 1.000 0.040 1 159279069 non coding transcript exon variant C/T snv 8.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs11362
rs11362
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2010 2010
dbSNP: rs1422985
rs1422985
2 0.925 0.120 5 148114596 intron variant A/C snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs17718511
rs17718511
2 0.925 0.120 5 148072009 intron variant A/G snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs17718737
rs17718737
2 0.925 0.120 5 148112898 synonymous variant T/C snv 4.5E-02 3.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs17860502
rs17860502
2 0.925 0.120 5 148086438 missense variant G/A snv 4.6E-02 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs1799946
rs1799946
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2010 2010
dbSNP: rs1800972
rs1800972
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs2066446
rs2066446
2 0.925 0.120 1 67315434 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs2511211
rs2511211
1 1.000 0.040 1 159260681 intergenic variant T/G snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs438421
rs438421
3 0.882 0.200 19 18065276 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs60978485
rs60978485
2 0.925 0.120 5 148091116 intron variant A/T snv 4.5E-02; 4.2E-06 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.020 0.500 2 2011 2011
dbSNP: rs1800875
rs1800875
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs2155219
rs2155219
14 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs2251746
rs2251746
3 0.882 0.120 1 159302270 intron variant T/C snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs28665122
rs28665122
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2011 2011