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: rs1411216
rs1411216
3 0.925 0.040 9 24520196 intergenic variant A/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs143405544
rs143405544
3 0.925 0.040 5 65459777 intron variant A/G snv 4.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs17158930
rs17158930
4 0.851 0.040 7 111871082 intron variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs17236239
rs17236239
3 0.882 0.040 7 147885213 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs174697
rs174697
5 0.851 0.080 22 19966309 intron variant A/G snv 0.88 0.010 1.000 1 2012 2012
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 2012 2012
dbSNP: rs182377406
rs182377406
3 0.925 0.040 11 67449378 upstream gene variant A/G snv 4.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2221540
rs2221540
2 0.925 0.040 11 132846474 intron variant A/G snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs2253206
rs2253206
6 0.851 0.080 2 207527254 intron variant A/G snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs3787283
rs3787283
3 0.882 0.040 20 10303770 intron variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs77945277
rs77945277
3 0.925 0.040 14 34840969 intron variant A/G snv 4.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs7973260
rs7973260
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs9364726
rs9364726
3 0.882 0.040 6 164236705 intergenic variant A/G snv 6.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 0.600 5 2002 2014
dbSNP: rs2551941
rs2551941
2 0.925 0.040 2 207627419 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs319924
rs319924
PHF3 ; EYS
2 0.925 0.040 6 63777354 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9862857
rs9862857
4 0.851 0.040 3 30453840 regulatory region variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.020 1.000 2 2012 2013