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: rs10078866
rs10078866
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs10196867
rs10196867
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1022563
rs1022563
2 0.925 0.080 20 1973693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2002 2002
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs10494334
rs10494334
1 1.000 0.080 1 163535374 intergenic variant G/A snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs10767664
rs10767664
16 0.752 0.400 11 27704439 intron variant T/A snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2013 2019
dbSNP: rs11030096
rs11030096
3 0.925 0.160 11 27643996 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11030104
rs11030104
12 0.790 0.240 11 27662970 intron variant A/G snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs1122079
rs1122079
1 1.000 0.080 17 65218385 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs11606194
rs11606194
1 1.000 0.080 11 113910259 intron variant T/C snv 6.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2011 2011
dbSNP: rs12364283
rs12364283
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs13306221
rs13306221
4 0.851 0.120 11 27701142 intron variant C/T snv 5.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1389752
rs1389752
2 0.925 0.080 9 13235288 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs147247472
rs147247472
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs1530351
rs1530351
2 0.925 0.080 17 65135491 intron variant G/A;C snv 0.010 1.000 1 2015 2015