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: rs9277535
rs9277535
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.900 0.917 24 2009 2018
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.900 0.913 23 2009 2019
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 0.818 11 2012 2015
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.100 1.000 11 1995 2020
dbSNP: rs7453920
rs7453920
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.880 0.909 11 2011 2017
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.860 1.000 8 2011 2017
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.080 0.750 8 2011 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.050 1.000 5 2015 2020
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.040 1.000 4 2014 2019
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.730 0.750 4 2011 2019
dbSNP: rs2395309
rs2395309
2 0.925 0.200 6 33058469 regulatory region variant A/G;T snv 0.28 0.710 1.000 4 2009 2013
dbSNP: rs3128917
rs3128917
2 0.925 0.200 6 33092219 non coding transcript exon variant T/G snv 0.33 0.720 1.000 4 2009 2019
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.030 0.667 3 2017 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.030 0.667 3 2011 2015
dbSNP: rs2301220
rs2301220
1 1.000 0.080 6 33070989 intron variant C/A;T snv 0.700 1.000 3 2009 2013
dbSNP: rs3135021
rs3135021
2 0.925 0.080 6 33077781 intron variant G/A snv 0.32 0.710 0.667 3 2009 2016
dbSNP: rs9277542
rs9277542
4 0.851 0.280 6 33087470 3 prime UTR variant T/A;C snv 0.710 1.000 3 2012 2016
dbSNP: rs9380343
rs9380343
1 1.000 0.080 6 33111389 upstream gene variant C/T snv 4.8E-02 0.710 1.000 3 2009 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.020 1.000 2 2014 2014
dbSNP: rs10484569
rs10484569
1 1.000 0.080 6 33091175 downstream gene variant G/A snv 5.9E-02 0.700 1.000 2 2009 2011
dbSNP: rs1431399
rs1431399
1 1.000 0.080 6 33073257 intron variant A/G;T snv 0.700 1.000 2 2011 2013
dbSNP: rs1431403
rs1431403
2 0.925 0.200 6 33079254 intron variant T/C snv 0.37 0.700 1.000 2 2012 2013
dbSNP: rs1799987
rs1799987
10 0.763 0.200 3 46370444 intron variant A/G snv 0.49 0.020 1.000 2 2011 2018
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2012 2019
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.020 1.000 2 2012 2019