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: rs2289195
rs2289195
2 1.000 0.040 2 25240614 intron variant G/A snv 0.41 0.41 0.010 1.000 1 2019 2019
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
dbSNP: rs4646536
rs4646536
14 0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 0.010 1.000 1 2015 2015
dbSNP: rs301430
rs301430
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.010 1.000 1 2010 2010
dbSNP: rs2361689
rs2361689
EN2
1 1.000 0.040 7 155462637 synonymous variant T/C snv 0.36 0.36 0.010 1.000 1 2004 2004
dbSNP: rs4746
rs4746
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2016 2016
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2270641
rs2270641
3 0.882 0.120 8 20180955 missense variant T/C;G snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 < 0.001 1 2016 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2010 2010
dbSNP: rs237902
rs237902
3 0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31 0.010 1.000 1 2018 2018
dbSNP: rs211037
rs211037
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2010 2010
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.020 1.000 2 2015 2018
dbSNP: rs2857766
rs2857766
MOG
4 0.882 0.120 6 29666226 missense variant G/C snv 0.22 0.19 0.020 1.000 2 2009 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2018 2018
dbSNP: rs2270637
rs2270637
3 0.882 0.120 8 20179316 missense variant C/G snv 0.20 0.21 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2009 2017
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 < 0.001 1 2015 2015
dbSNP: rs1801123
rs1801123
3 0.882 0.120 2 226796327 synonymous variant T/C snv 0.18 0.20 0.010 1.000 1 2016 2016
dbSNP: rs7170637
rs7170637
2 0.925 0.040 15 22903836 missense variant C/T snv 0.18 0.30 0.010 1.000 1 2014 2014
dbSNP: rs2230365
rs2230365
4 0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13 0.010 1.000 1 2019 2019
dbSNP: rs5918
rs5918
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 1.000 1 2017 2017