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: rs13361160
rs13361160
2 1.000 0.036 5 10169711 intergenic variant T/C snp 0.33 0.800 1 2013 2013
dbSNP: rs17122021
rs17122021
1 11 118274971 intergenic variant C/A,T snp 0.40 0.800 1 2009 2009
dbSNP: rs2562456
rs2562456
1 19 21483408 non coding transcript exon variant C/T snp 0.77 0.800 1 2009 2009
dbSNP: rs1057518927
rs1057518927
OAT
4 1.000 0.071 10 124402952 missense variant T/C snp 0.700 1 2015 2015
dbSNP: rs1057518946
rs1057518946
8 1.000 X 71223816 missense variant G/T snp 0.700 1 2015 2015
dbSNP: rs1972597
rs1972597
2 1.000 0.036 17 77598082 intergenic variant T/C snp 0.31 0.700 1 2016 2016
dbSNP: rs3862188
rs3862188
2 1.000 0.036 1 247702471 intron variant T/C snp 0.42 0.700 1 2016 2016
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.100 0.852 27 2003 2017
dbSNP: rs1799971
rs1799971
57 0.611 0.500 6 154039662 missense variant A/G snp 0.19 0.12 0.100 1.000 25 2005 2016
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.050 1.000 5 2011 2017
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.050 1.000 5 2011 2017
dbSNP: rs8007267
rs8007267
6 0.878 0.179 14 54912273 intergenic variant C/T snp 0.30 0.040 1.000 4 2007 2014
dbSNP: rs5275
rs5275
29 0.634 0.321 1 186673926 3 prime UTR variant A/G,T snp 0.40 0.030 1.000 3 2010 2017
dbSNP: rs6746030
rs6746030
7 0.821 0.250 2 166242648 missense variant A/G snp 0.88 0.89 0.030 1.000 3 2010 2015
dbSNP: rs10483639
rs10483639
4 1.000 0.036 14 54839739 regulatory region variant G/C snp 0.25 0.020 1.000 2 2007 2010
dbSNP: rs165774
rs165774
2 1.000 0.036 22 19965038 3 prime UTR variant G/A snp 0.27 0.020 1.000 2 2014 2016
dbSNP: rs324420
rs324420
36 0.657 0.321 1 46405089 missense variant C/A snp 0.24 0.28 0.020 1.000 2 2014 2016
dbSNP: rs3783641
rs3783641
4 0.923 0.107 14 54893421 intron variant T/A snp 0.24 0.020 1.000 2 2007 2009
dbSNP: rs4633
rs4633
13 0.756 0.214 22 19962712 synonymous variant C/T snp 0.46 0.46 0.020 0.500 2 2012 2016
dbSNP: rs5277
rs5277
6 0.846 0.107 1 186679065 synonymous variant C/G,T snp 0.12; 8.0E-06 0.12; 3.2E-05 0.020 1.000 2 2012 2017
dbSNP: rs53576
rs53576
23 0.692 0.107 3 8762685 intron variant A/G,T snp 0.67 0.020 1.000 2 2014 2015
dbSNP: rs563649
rs563649
2 1.000 0.036 6 154086832 5 prime UTR variant C/T snp 9.4E-02 0.020 1.000 2 2009 2010
dbSNP: rs6280
rs6280
31 0.652 0.357 3 114171968 missense variant C/T snp 0.63 0.56 0.020 1.000 2 2009 2015
dbSNP: rs10166942
rs10166942
3 1.000 0.036 2 233916448 intergenic variant T/C snp 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1042713
rs1042713
38 0.622 0.571 5 148826877 missense variant G/A snp 0.42 0.43 0.010 1.000 1 2010 2010