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: rs17188113
rs17188113
1 1.000 0.040 6 30163346 5 prime UTR variant T/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs17250932
rs17250932
5 0.851 0.160 17 47731941 upstream gene variant T/C snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2234711
rs2234711
6 0.827 0.080 6 137219383 5 prime UTR variant A/G snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs3117099
rs3117099
2 0.925 0.160 6 32390493 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs3212217
rs3212217
3 0.925 0.040 5 159328122 intron variant C/G snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs3744246
rs3744246
1 1.000 0.040 17 39928097 intron variant T/C snv 0.76 0.010 1.000 1 2018 2018
dbSNP: rs41417449
rs41417449
1 1.000 0.040 6 32396234 missense variant T/C snv 2.3E-02 9.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs511278
rs511278
1 1.000 0.040 1 161521106 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2018 2018
dbSNP: rs6951457
rs6951457
1 1.000 0.040 7 107815875 intergenic variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs713669
rs713669
1 1.000 0.040 22 50013342 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7192
rs7192
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.010 1.000 1 2018 2018
dbSNP: rs758548184
rs758548184
5 0.851 0.240 16 50699557 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs8126756
rs8126756
3 0.925 0.040 21 33403138 5 prime UTR variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs78534766
rs78534766
7 0.827 0.080 16 50301163 missense variant C/A snv 4.3E-03 3.6E-03 0.700 1.000 2 2017 2017
dbSNP: rs10226620
rs10226620
4 1.000 0.040 7 1541881 3 prime UTR variant T/C snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs111456533
rs111456533
2 1.000 0.040 10 124750812 intron variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs113986290
rs113986290
1 1.000 0.040 6 19780778 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs11548656
rs11548656
2 1.000 0.040 16 81883307 missense variant A/G snv 2.5E-02 2.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs11581607
rs11581607
4 0.925 0.040 1 67242007 intron variant G/A snv 4.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs11672983
rs11672983
2 1.000 0.040 19 54871595 upstream gene variant G/A snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1250569
rs1250569
3 0.925 0.040 10 79285450 intron variant T/C snv 0.44 0.51 0.010 1.000 1 2017 2017
dbSNP: rs138788
rs138788
1 1.000 0.040 22 35333728 intron variant G/A snv 0.49 0.700 1.000 1 2017 2017