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: rs750805885
rs750805885
3 0.882 0.080 1 150579475 frameshift variant -/C delins 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.020 1.000 2 2016 2019
dbSNP: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.020 1.000 2 2008 2011
dbSNP: rs10775412
rs10775412
5 0.827 0.120 17 27542007 intron variant A/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs10960680
rs10960680
1 1.000 0.040 9 12483941 intergenic variant A/C snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs12119179
rs12119179
2 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1343152
rs1343152
1 1.000 0.040 1 67238649 intron variant A/C snv 0.33 0.010 1.000 1 2010 2010
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: rs1551399
rs1551399
5 0.827 0.120 8 125527723 intron variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs17780256
rs17780256
6 0.827 0.120 17 72646784 3 prime UTR variant A/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs371045754
rs371045754
F9
4 0.882 0.200 X 139530726 upstream gene variant A/C snv 5.5E-06 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs4319543
rs4319543
1 1.000 0.040 12 122160501 intergenic variant A/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs4908742
rs4908742
2 0.925 0.080 1 8184970 upstream gene variant A/C snv 0.63 0.010 1.000 1 2015 2015
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: rs610037
rs610037
1 1.000 0.040 11 65779386 synonymous variant A/C snv 0.45 0.52 0.700 1.000 1 2015 2015
dbSNP: rs61802846
rs61802846
5 0.827 0.120 1 161504083 upstream gene variant A/C snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs73129298
rs73129298
1 1.000 0.040 20 49949528 intron variant A/C snv 9.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.810 1.000 4 2010 2018
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs27432
rs27432
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs280519
rs280519
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.800 1.000 1 2010 2010
dbSNP: rs681323
rs681323
1 1.000 0.040 6 137797444 upstream gene variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs714830
rs714830
5 0.827 0.120 6 20624151 intron variant A/C;G snv 0.13 0.700 1.000 1 2016 2016