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: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.020 1.000 2 2015 2017
dbSNP: rs12752888
rs12752888
4 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs610932
rs610932
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1207568
rs1207568
KL
3 0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs227959
rs227959
1 1.000 0.040 17 3406923 upstream gene variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs7895833
rs7895833
12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs10119
rs10119
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs15009
rs15009
2 0.925 0.080 5 58454523 3 prime UTR variant C/G snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs8063
rs8063
1 1.000 0.040 16 1324817 3 prime UTR variant A/C;G snv 4.0E-06; 4.0E-06; 0.71 0.010 1.000 1 2009 2009
dbSNP: rs8702
rs8702
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2007 2007
dbSNP: rs11667768
rs11667768
1 1.000 0.040 19 40348525 5 prime UTR variant C/T snv 6.3E-02 0.11 0.010 1.000 1 2018 2018
dbSNP: rs9331888
rs9331888
5 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1256049
rs1256049
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs157581
rs157581
3 0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29 0.010 1.000 1 2014 2014
dbSNP: rs2070045
rs2070045
4 0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23 0.010 1.000 1 2015 2015
dbSNP: rs592297
rs592297
2 0.925 0.080 11 86014894 synonymous variant C/T snv 0.78 0.82 0.010 1.000 1 2016 2016
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2007 2007
dbSNP: rs3846662
rs3846662
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.020 0.500 2 2019 2019
dbSNP: rs1010159
rs1010159
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2015 2015
dbSNP: rs702723
rs702723
2 0.925 0.080 5 58457629 non coding transcript exon variant C/T snv 0.67 0.66 0.010 1.000 1 2016 2016
dbSNP: rs754203
rs754203
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 0.714 7 2008 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 0.667 6 2008 2020
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2009 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2011