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: rs12316150
rs12316150
1 1.000 0.080 12 10159692 3 prime UTR variant A/T snv 7.4E-02 0.700 0
dbSNP: rs148636776
rs148636776
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs28939702
rs28939702
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs63750273
rs63750273
9 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
dbSNP: rs63750410
rs63750410
9 0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05 0.700 0
dbSNP: rs63750459
rs63750459
13 0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs63751215
rs63751215
6 0.882 0.240 16 16159556 missense variant G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs63751279
rs63751279
5 0.925 0.200 16 16150204 missense variant C/T snv 6.0E-05 4.2E-05 0.700 0
dbSNP: rs66492417
rs66492417
10 0.882 0.240 16 16178909 stop gained G/T snv 0.700 0
dbSNP: rs66913554
rs66913554
7 0.882 0.240 16 16154644 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs72650699
rs72650699
12 0.851 0.280 16 16202045 stop gained G/A snv 4.8E-05 1.8E-04 0.700 0
dbSNP: rs72653744
rs72653744
14 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.700 0
dbSNP: rs72653762
rs72653762
13 0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 0.700 0
dbSNP: rs72653800
rs72653800
5 0.925 0.200 16 16175934 missense variant C/A;T snv 8.0E-06 0.700 0
dbSNP: rs72657692
rs72657692
10 0.851 0.280 16 16169667 missense variant C/G;T snv 4.1E-06; 2.5E-05 0.700 0
dbSNP: rs72664207
rs72664207
6 0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs72664208
rs72664208
7 0.882 0.240 16 16182799 splice region variant C/T snv 7.0E-06 0.700 0
dbSNP: rs72664209
rs72664209
12 0.827 0.240 16 16173283 splice donor variant C/A snv 8.0E-06; 1.2E-04 1.7E-04 0.700 0
dbSNP: rs774648925
rs774648925
6 0.925 0.200 16 16190210 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs797045032
rs797045032
11 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.700 0
dbSNP: rs11748327
rs11748327
2 1.000 0.080 5 4029676 downstream gene variant C/T snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs1746048
rs1746048
8 0.776 0.120 10 44280376 downstream gene variant C/T snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs3803915
rs3803915
1 1.000 0.080 19 2160530 intron variant C/A;T snv 0.800 1.000 1 2015 2015
dbSNP: rs4618210
rs4618210
1 1.000 0.080 3 17082892 intron variant A/G snv 0.56 0.800 1.000 1 2015 2015