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: rs138047593
rs138047593
1 1.000 0.080 2 127050470 missense variant T/C snv 9.2E-03 8.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs1550117
rs1550117
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs35349669
rs35349669
2 0.925 0.080 2 233159830 intron variant C/T snv 0.35 0.010 < 0.001 1 2016 2016
dbSNP: rs4669573
rs4669573
1 1.000 0.080 2 10338810 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs67327804
rs67327804
1 1.000 0.080 2 127069056 intron variant A/G snv 0.30 0.33 0.010 1.000 1 2014 2014
dbSNP: rs754834233
rs754834233
1 1.000 0.080 2 127059060 missense variant G/A snv 4.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs7561528
rs7561528
3 0.882 0.080 2 127132061 intergenic variant G/A snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs775494528
rs775494528
1 1.000 0.080 2 127057558 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2011 2017
dbSNP: rs11711889
rs11711889
1 1.000 0.080 3 153652877 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2004 2004
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs2304456
rs2304456
4 0.925 0.120 3 186727263 missense variant T/G snv 0.12 9.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 1.000 1 2018 2018
dbSNP: rs3732379
rs3732379
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2018 2018
dbSNP: rs6665
rs6665
MME
1 1.000 0.080 3 155183416 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs6784615
rs6784615
2 1.000 0.080 3 52472410 intron variant C/T snv 0.96 0.96 0.010 1.000 1 2017 2017
dbSNP: rs710446
rs710446
4 0.925 0.120 3 186742138 missense variant T/C snv 0.42 0.44 0.010 1.000 1 2015 2015
dbSNP: rs137875858
rs137875858
2 0.925 0.080 4 95170280 missense variant G/A snv 2.9E-04 2.6E-04 0.020 1.000 2 2014 2016
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.020 0.500 2 2011 2017
dbSNP: rs190982
rs190982
2 0.925 0.080 5 88927603 intron variant G/A snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs3730089
rs3730089
5 0.827 0.280 5 68292320 missense variant G/A snv 0.18 0.22 0.010 1.000 1 2002 2002