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: rs1131445
rs1131445
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1368439
rs1368439
2 1.000 0.080 5 159315006 3 prime UTR variant G/T snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs143894582
rs143894582
3 1.000 0.080 12 112469070 intron variant A/-;AA delins 0.010 1.000 1 2018 2018
dbSNP: rs149212747
rs149212747
2 1.000 0.080 12 111398968 intron variant C/-;CC;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2018 2018
dbSNP: rs3917328
rs3917328
2 1.000 0.080 2 102178081 3 prime UTR variant C/G;T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs4648143
rs4648143
2 1.000 0.080 4 102616617 3 prime UTR variant G/A;T snv 5.0E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs774062108
rs774062108
3 0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs778338788
rs778338788
2 1.000 0.080 15 81300440 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs878081
rs878081
3 0.882 0.200 21 44288394 synonymous variant C/T snv 0.21 0.19 0.010 1.000 1 2018 2018
dbSNP: rs940553638
rs940553638
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.040 0.750 4 2010 2017
dbSNP: rs1000579
rs1000579
3 1.000 0.080 4 4717767 intron variant A/G snv 0.44 0.800 1.000 2 2012 2017
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2014 2017
dbSNP: rs2235751
rs2235751
3 0.882 0.120 20 1989288 intron variant A/G snv 0.40 0.020 1.000 2 2013 2017
dbSNP: rs6350
rs6350
3 0.882 0.080 5 1443084 missense variant G/A;C snv 5.6E-02; 6.8E-05 0.020 1.000 2 2009 2017
dbSNP: rs6857715
rs6857715
5 0.827 0.160 4 155208030 non coding transcript exon variant C/A;T snv 0.020 1.000 2 2010 2017
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs886205
rs886205
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.020 1.000 2 2016 2017
dbSNP: rs9886351
rs9886351
2 0.925 0.080 7 70783483 non coding transcript exon variant A/G snv 0.33 0.020 1.000 2 2016 2017
dbSNP: rs10198241
rs10198241
4 0.925 0.080 2 226115660 intergenic variant T/C snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs10211296
rs10211296
3 1.000 0.080 2 165633833 intron variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs10392
rs10392
6 0.882 0.160 20 38922292 3 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017