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: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.100 1.000 13 2005 2015
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.100 1.000 13 2005 2015
dbSNP: rs2230912
rs2230912
10 0.769 0.143 12 121184393 missense variant A/G snp 0.13 0.12 0.060 0.833 6 2009 2017
dbSNP: rs1006737
rs1006737
31 0.679 0.107 12 2236129 intron variant G/A snp 0.37 0.040 1.000 4 2012 2015
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.030 0.667 3 2012 2015
dbSNP: rs208294
rs208294
5 0.878 0.107 12 121162450 missense variant T/A,C,G snp 0.51 0.59 0.020 1.000 2 2011 2013
dbSNP: rs2251219
rs2251219
13 0.734 0.071 3 52550771 synonymous variant T/C snp 0.39; 4.0E-06 0.34 0.810 1.000 2 2010 2012
dbSNP: rs6313
rs6313
50 0.590 0.500 13 46895805 synonymous variant G/A snp 0.41 0.39 0.020 1.000 2 2000 2009
dbSNP: rs6318
rs6318
22 0.707 0.250 X 114731326 missense variant C/G,T snp 0.14 0.19 0.020 1.000 2 2001 2012
dbSNP: rs734312
rs734312
8 0.846 0.286 4 6301627 missense variant G/A snp 0.55 0.43 0.020 0.500 2 2006 2009
dbSNP: rs878567
rs878567
3 0.923 0.036 5 63960164 intron variant A/C,G snp 3.2E-05; 0.57 0.020 1.000 2 2010 2013
dbSNP: rs1049353
rs1049353
26 0.657 0.464 6 88143916 synonymous variant C/T snp 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs11123857
rs11123857
1 2 100987350 non coding transcript exon variant A/G snp 0.29 0.010 1.000 1 2010 2010
dbSNP: rs111365677
rs111365677
2 1.000 0.036 1 99463578 intergenic variant T/C snp 2.2E-03 0.700 1 2017 2017
dbSNP: rs112538845
rs112538845
2 1.000 0.036 4 184084475 intergenic variant C/T snp 1.8E-02 0.700 1 2017 2017
dbSNP: rs113378111
rs113378111
3 1.000 0.036 2 9788024 regulatory region variant G/A snp 3.3E-02 0.700 1 2017 2017
dbSNP: rs114465512
rs114465512
3 1.000 0.036 22 22047895 C/T snp 3.8E-03 0.700 1 2017 2017
dbSNP: rs117198528
rs117198528
3 1.000 0.036 18 49694188 intergenic variant T/G snp 1.1E-02 0.700 1 2017 2017
dbSNP: rs12273363
rs12273363
6 0.846 0.071 11 27723312 intron variant T/C snp 0.16; 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1344706
rs1344706
13 0.769 0.071 2 184913701 intron variant A/C,T snp 0.31 0.010 1.000 1 2011 2011
dbSNP: rs1360780
rs1360780
16 0.769 0.107 6 35639794 intron variant T/A,C snp 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1375194
rs1375194
2 1.000 0.036 2 33601810 intergenic variant T/C snp 0.43 0.700 1 2017 2017
dbSNP: rs142641502
rs142641502
2 1.000 0.036 11 33109861 intron variant T/C snp 6.9E-03 0.700 1 2017 2017
dbSNP: rs143405544
rs143405544
2 1.000 0.036 5 65459777 intron variant A/G snp 3.6E-03 0.700 1 2017 2017
dbSNP: rs143934587
rs143934587
2 1.000 0.036 20 19165806 G/A snp 9.0E-03 0.700 1 2017 2017