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: rs10750899
rs10750899
5 0.827 0.120 11 58517478 intergenic variant G/A snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 5 2008 2016
dbSNP: rs524149
rs524149
1 1.000 0.040 18 24458360 upstream gene variant T/C snv 0.92 0.010 1.000 1 2016 2016
dbSNP: rs151823
rs151823
1 1.000 0.040 5 96824289 intron variant A/C snv 0.90 0.700 1.000 1 2010 2010
dbSNP: rs514475
rs514475
1 1.000 0.040 6 137717768 intron variant A/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs1713239
rs1713239
2 1.000 0.040 1 206864130 upstream gene variant G/C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs249038
rs249038
1 1.000 0.040 5 80449650 missense variant A/G snv 0.91 0.87 0.700 1.000 1 2015 2015
dbSNP: rs7552167
rs7552167
6 0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87 0.800 1.000 2 2012 2016
dbSNP: rs2328530
rs2328530
5 0.827 0.120 6 20643496 intron variant G/A snv 0.85 0.700 1.000 1 2016 2016
dbSNP: rs2816958
rs2816958
6 0.827 0.120 1 200132792 intron variant A/G snv 0.84 0.700 1.000 1 2016 2016
dbSNP: rs4819554
rs4819554
10 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 0.020 1.000 2 2015 2020
dbSNP: rs7071642
rs7071642
1 1.000 0.040 10 62654300 intron variant G/A snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs7426056
rs7426056
6 0.807 0.120 2 203747335 regulatory region variant A/G snv 0.81 0.700 1.000 1 2016 2016
dbSNP: rs1295685
rs1295685
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.800 1.000 1 2012 2012
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.700 1.000 1 2016 2016
dbSNP: rs1008953
rs1008953
1 1.000 0.040 20 45352086 upstream gene variant T/C snv 0.79 0.800 1.000 1 2010 2010
dbSNP: rs140135
rs140135
5 0.827 0.120 22 29767846 non coding transcript exon variant C/G snv 0.79 0.700 1.000 1 2016 2016
dbSNP: rs36207871
rs36207871
CS
1 1.000 0.040 12 56290713 intron variant AGGAA/- delins 0.79 0.700 1.000 1 2015 2015
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2009 2010
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs6908425
rs6908425
11 0.752 0.320 6 20728500 intron variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs758739
rs758739
1 1.000 0.040 12 6517203 intron variant G/C snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs6556411
rs6556411
5 0.827 0.120 5 159356215 intron variant G/T snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs941823
rs941823
6 0.827 0.120 13 40439840 intron variant T/C snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs10743181
rs10743181
5 0.827 0.120 11 2208529 regulatory region variant A/G snv 0.77 0.700 1.000 1 2016 2016