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: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 2 1997 2016
dbSNP: rs9880772
rs9880772
5 0.827 0.240 3 27736288 intergenic variant G/A snv 0.59 0.700 1.000 3 2016 2017
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 2 2007 2014
dbSNP: rs140522
rs140522
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs210143
rs210143
6 0.827 0.160 6 33579153 intron variant T/C snv 0.74 0.700 1.000 2 2017 2017
dbSNP: rs391855
rs391855
2 0.925 0.120 16 85895015 upstream gene variant A/T snv 0.52 0.700 1.000 2 2016 2017
dbSNP: rs58055674
rs58055674
2 0.925 0.120 2 111074216 intron variant T/C snv 0.13 0.700 1.000 2 2016 2017
dbSNP: rs10028805
rs10028805
3 0.882 0.160 4 101816093 intron variant G/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1050976
rs1050976
4 0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs1057519895
rs1057519895
17 0.724 0.240 4 152328232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519896
rs1057519896
12 0.742 0.320 4 152326136 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519959
rs1057519959
4 0.882 0.200 11 66063028 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961
4 0.851 0.240 2 197402759 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519983
rs1057519983
16 0.724 0.360 17 7673797 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519992
rs1057519992
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519995
rs1057519995
9 0.807 0.240 17 7674200 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520009
rs1057520009
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057520010
rs1057520010
5 0.882 0.200 2 61492336 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs11637565
rs11637565
2 0.925 0.120 15 69728186 intron variant G/A snv 0.66 0.700 1.000 1 2017 2017