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: rs10174949
rs10174949
2 1.000 0.080 2 8302118 non coding transcript exon variant G/A snv 0.23 0.800 1.000 3 2013 2018
dbSNP: rs1059513
rs1059513
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.700 1.000 3 2016 2018
dbSNP: rs1438673
rs1438673
4 0.882 0.120 5 111131801 downstream gene variant C/T snv 0.61 0.800 1.000 3 2013 2018
dbSNP: rs1837253
rs1837253
10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.800 1.000 3 2013 2018
dbSNP: rs10414065
rs10414065
4 0.882 0.080 19 33230549 upstream gene variant C/T snv 5.5E-02 0.700 1.000 2 2017 2018
dbSNP: rs1064213
rs1064213
2 2 198085516 missense variant G/A snv 0.44 0.41 0.800 1.000 2 2013 2017
dbSNP: rs10876864
rs10876864
5 0.882 0.120 12 56007301 upstream gene variant G/A snv 0.50 0.700 1.000 2 2017 2018
dbSNP: rs11644510
rs11644510
2 1.000 0.120 16 11183501 downstream gene variant C/T snv 0.39 0.700 1.000 2 2016 2017
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: rs17294280
rs17294280
4 0.882 0.120 15 67175947 intron variant A/G snv 0.19 0.800 1.000 2 2013 2016
dbSNP: rs1775550
rs1775550
1 10 9010779 regulatory region variant G/A;C snv 0.800 1.000 2 2013 2016
dbSNP: rs34004019
rs34004019
2 1.000 0.120 6 32658626 upstream gene variant A/G snv 0.29 0.700 1.000 2 2016 2017
dbSNP: rs34290285
rs34290285
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 2 2017 2018
dbSNP: rs367023
rs367023
2 1.000 0.040 2 8309993 intron variant A/G snv 0.35 0.800 1.000 2 2013 2016
dbSNP: rs4795400
rs4795400
3 0.925 0.080 17 39910767 intron variant C/T snv 0.36 0.800 1.000 2 2013 2016
dbSNP: rs61839660
rs61839660
9 0.776 0.280 10 6052734 intron variant C/T snv 5.7E-02 0.700 1.000 2 2017 2018
dbSNP: rs6461503
rs6461503
3 0.925 0.080 7 20521373 intergenic variant T/C;G snv 0.700 1.000 2 2017 2018
dbSNP: rs6594499
rs6594499
4 0.882 0.120 5 111134439 downstream gene variant C/A snv 0.56 0.800 1.000 2 2013 2017
dbSNP: rs7824394
rs7824394
1 8 80380364 intron variant A/C;T snv 0.700 1.000 2 2016 2017
dbSNP: rs7936323
rs7936323
6 0.882 0.160 11 76582714 intergenic variant G/A snv 0.44 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: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs10008032
rs10008032
2 1.000 0.080 4 38743861 intergenic variant T/C snv 0.66 0.700 1.000 1 2018 2018