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: rs12339348
rs12339348
2 1.000 0.080 9 6233082 intron variant A/G;T snv 0.800 1.000 2 2013 2018
dbSNP: rs12413578
rs12413578
4 0.882 0.160 10 9007290 intergenic variant C/G;T snv 0.700 1.000 2 2017 2018
dbSNP: rs1775550
rs1775550
1 10 9010779 regulatory region variant G/A;C snv 0.800 1.000 2 2013 2016
dbSNP: rs6461503
rs6461503
3 0.925 0.080 7 20521373 intergenic variant T/C;G snv 0.700 1.000 2 2017 2018
dbSNP: rs7824394
rs7824394
1 8 80380364 intron variant A/C;T snv 0.700 1.000 2 2016 2017
dbSNP: rs869402
rs869402
3 0.925 0.160 17 39911790 intron variant T/A;C snv 0.800 1.000 2 2013 2018
dbSNP: rs950881
rs950881
2 1.000 0.120 2 102316052 intron variant G/A;T snv 0.800 1.000 2 2013 2016
dbSNP: rs10008492
rs10008492
2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10041894
rs10041894
1 5 40493132 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10051830
rs10051830
1 5 111117147 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10055860
rs10055860
1 5 40569851 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10075020
rs10075020
1 5 40575737 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1008723
rs1008723
3 0.925 0.160 17 39910014 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10172116
rs10172116
1 2 102471113 upstream gene variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1017494
rs1017494
2 1.000 0.080 2 234770601 regulatory region variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10176664
rs10176664
1 2 102359712 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10189897
rs10189897
1 2 197948686 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10192466
rs10192466
1 2 197873295 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10198606
rs10198606
1 2 197905015 intron variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10206714
rs10206714
1 2 198041757 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10206753
rs10206753
2 1.000 0.080 2 102351902 missense variant T/C;G snv 0.34; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1043828
rs1043828
2 1.000 0.080 5 111128310 3 prime UTR variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10447257
rs10447257
1 5 110845538 intergenic variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs1048990
rs1048990
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs10491424
rs10491424
1 5 111118108 intron variant T/A;C snv 0.700 1.000 1 2013 2013