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: rs12110303
rs12110303
1 1.000 0.080 5 91367022 downstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12189522
rs12189522
1 1.000 0.080 5 53298177 non coding transcript exon variant A/G snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs12207986
rs12207986
1 1.000 0.080 6 80384570 intergenic variant G/A snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs12250948
rs12250948
1 1.000 0.080 10 113368732 regulatory region variant T/C snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs1233480
rs1233480
1 1.000 0.080 6 29509637 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1236971182
rs1236971182
1 1.000 0.080 6 36684381 missense variant C/T snv 8.1E-06 0.010 1.000 1 1996 1996
dbSNP: rs12458099
rs12458099
1 1.000 0.080 18 27025475 intron variant G/A;T snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs12474538
rs12474538
1 1.000 0.080 2 69207095 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12479355
rs12479355
1 1.000 0.080 2 226362236 intergenic variant A/G snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs12481286
rs12481286
1 1.000 0.080 20 53671071 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12483853
rs12483853
1 1.000 0.080 22 40143521 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12506630
rs12506630
1 1.000 0.080 4 53046426 intron variant G/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs12519859
rs12519859
1 1.000 0.080 5 32581080 intron variant G/A snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs12546444
rs12546444
1 1.000 0.080 8 105346392 intron variant A/T snv 8.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs12655019
rs12655019
1 1.000 0.080 5 56899963 downstream gene variant A/G snv 9.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs1268974
rs1268974
1 1.000 0.080 10 79092621 intron variant A/G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs1274638
rs1274638
1 1.000 0.080 14 68200005 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1274639
rs1274639
1 1.000 0.080 14 68201782 intron variant C/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs1274640
rs1274640
1 1.000 0.080 14 68201811 intron variant C/T snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1274642
rs1274642
1 1.000 0.080 14 68205986 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs1274643
rs1274643
1 1.000 0.080 14 68206362 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1274644
rs1274644
1 1.000 0.080 14 68206400 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs1274645
rs1274645
1 1.000 0.080 14 68206609 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs1274646
rs1274646
1 1.000 0.080 14 68206672 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1274647
rs1274647
1 1.000 0.080 14 68207127 intron variant T/C snv 0.18 0.700 1.000 1 2012 2012