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: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.100 0.857 14 2012 2018
dbSNP: rs751402
rs751402
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.100 0.833 12 2012 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.818 11 2005 2014
dbSNP: rs13361707
rs13361707
7 0.882 0.120 5 40791782 intron variant C/T snv 0.31 0.780 1.000 9 2011 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 2009 2015
dbSNP: rs3748067
rs3748067
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.080 0.750 8 2012 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 2009 2015
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.070 1.000 7 2008 2015
dbSNP: rs2094258
rs2094258
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.060 0.833 6 2016 2019
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.040 1.000 4 2014 2016
dbSNP: rs13042395
rs13042395
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.040 0.750 4 2011 2017
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.040 1.000 4 2012 2019
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.040 1.000 4 2011 2019
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.040 1.000 4 2012 2018
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.040 0.750 4 2014 2019
dbSNP: rs920778
rs920778
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.040 1.000 4 2015 2020
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 1.000 3 2011 2019
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.030 1.000 3 2011 2014
dbSNP: rs13420827
rs13420827
4 0.882 0.160 2 25231099 3 prime UTR variant C/G;T snv 0.030 1.000 3 2012 2018
dbSNP: rs158572
rs158572
4 0.851 0.120 5 60943616 intron variant G/A snv 0.63 0.030 1.000 3 2015 2018
dbSNP: rs158916
rs158916
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.030 1.000 3 2015 2018
dbSNP: rs1917799
rs1917799
4 0.851 0.120 10 49542929 upstream gene variant A/C snv 0.25 0.030 1.000 3 2013 2017
dbSNP: rs2070803
rs2070803
5 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.030 1.000 3 2011 2017
dbSNP: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.030 1.000 3 2013 2015
dbSNP: rs2296147
rs2296147
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.030 1.000 3 2012 2019