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: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.760 1.000 8 2011 2017
dbSNP: rs9277535
rs9277535
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.760 1.000 8 2011 2017
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.730 1.000 5 2013 2017
dbSNP: rs7453920
rs7453920
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.720 1.000 5 2013 2017
dbSNP: rs7549785
rs7549785
3 0.925 0.080 1 159308078 3 prime UTR variant G/A snv 0.13 0.710 1.000 1 2019 2019
dbSNP: rs12614
rs12614
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.700 1.000 1 2015 2015
dbSNP: rs1419881
rs1419881
4 0.851 0.280 6 31162816 3 prime UTR variant G/A snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.700 1.000 1 2015 2015
dbSNP: rs2853953
rs2853953
1 1.000 0.080 6 31267728 downstream gene variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs3130542
rs3130542
8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.700 1.000 1 2015 2015
dbSNP: rs378352
rs378352
2 0.925 0.200 6 33007157 synonymous variant G/A;C snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs422951
rs422951
8 0.807 0.280 6 32220606 missense variant T/C snv 0.40 0.40 0.700 1.000 1 2015 2015
dbSNP: rs61886277
rs61886277
1 1.000 0.080 10 94012060 intergenic variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs652888
rs652888
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2015 2015
dbSNP: rs7756516
rs7756516
4 0.851 0.280 6 32756140 3 prime UTR variant C/T snv 0.49 0.700 1.000 1 2014 2014
dbSNP: rs78900671
rs78900671
1 1.000 0.080 8 138653967 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs9276370
rs9276370
3 0.882 0.200 6 32739518 upstream gene variant G/T snv 0.51 0.700 1.000 1 2014 2014
dbSNP: rs9287655
rs9287655
1 1.000 0.080 2 15245360 intron variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs9366816
rs9366816
2 0.925 0.080 6 33136398 intron variant T/C snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs2296651
rs2296651
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.060 1.000 6 2015 2018
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.050 1.000 5 2012 2015
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2013 2015
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.030 1.000 3 2015 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2013
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.020 1.000 2 2015 2017