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: rs2242660
rs2242660
2 0.925 0.160 6 31629976 intron variant G/A snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs2425752
rs2425752
4 0.851 0.160 20 46073481 intron variant T/C snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2018 2018
dbSNP: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs2516513
rs2516513
5 0.925 0.120 6 31479811 downstream gene variant C/T snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2523710
rs2523710
1 1.000 0.120 6 31483132 intron variant G/A snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs2534657
rs2534657
6 0.882 0.200 6 31504682 intron variant C/T snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs2546191
rs2546191
4 0.851 0.160 5 95896837 intron variant G/A snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs2720680
rs2720680
4 0.851 0.160 8 128102971 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs2763979
rs2763979
5 0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs2855430
rs2855430
1 1.000 0.120 6 33173503 missense variant G/A snv 0.12 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs3093998
rs3093998
1 1.000 0.120 6 31517397 downstream gene variant C/A snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs3129214
rs3129214
2 0.925 0.160 6 33149481 downstream gene variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs3129223
rs3129223
2 0.925 0.160 6 33145420 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs3129234
rs3129234
2 0.925 0.160 6 33143570 upstream gene variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs3130237
rs3130237
1 1.000 0.120 6 33129784 downstream gene variant T/C snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs34972832
rs34972832
2 0.925 0.120 16 11105081 intron variant G/A;T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs35603048
rs35603048
BMF
4 0.851 0.160 15 40099764 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3763313
rs3763313
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs3781093
rs3781093
3 0.882 0.120 10 8059964 intron variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs4240807
rs4240807
4 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs4525246
rs4525246
4 0.851 0.160 11 123524538 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs4733809
rs4733809
1 1.000 0.120 8 127977046 intron variant C/T snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs477515
rs477515
10 0.790 0.400 6 32601914 intergenic variant G/A snv 0.27 0.700 1.000 1 2013 2013