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: rs3852144
rs3852144
1 1.000 0.040 5 56566769 intron variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
9 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs6189
rs6189
6 0.827 0.240 5 143400774 missense variant C/A;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs7103411
rs7103411
15 0.752 0.160 11 27678578 intron variant C/T snv 0.82 0.010 1.000 1 2018 2018
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 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 0.100 0.850 20 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.824 17 2006 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.080 0.750 8 2010 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.060 1.000 6 2013 2019
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.060 0.833 6 2008 2019
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.050 0.800 5 2008 2019
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.030 0.667 3 2012 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2016 2019
dbSNP: rs8042149
rs8042149
3 0.882 0.160 15 60832754 intron variant T/G snv 0.44 0.720 1.000 3 2013 2019
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.020 1.000 2 2016 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2019 2019
dbSNP: rs12458282
rs12458282
MBP
1 1.000 0.040 18 77061897 intron variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs17689918
rs17689918
6 0.851 0.080 17 45832722 intron variant G/A snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2019 2019
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019