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: rs1161098
rs1161098
1 12 67453680 intron variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs594418
rs594418
1 10 82625296 intron variant G/A snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs3129888
rs3129888
4 0.882 0.240 6 32443949 intron variant G/A snv 0.82 0.80 0.700 1.000 1 2013 2013
dbSNP: rs314879
rs314879
1 13 22735243 intergenic variant C/T snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs2395182
rs2395182
5 0.851 0.280 6 32445540 downstream gene variant G/T snv 0.76 0.700 1.000 1 2013 2013
dbSNP: rs3104369
rs3104369
1 6 32634705 intron variant T/C snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs2153486
rs2153486
1 14 87737048 intron variant C/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs2227139
rs2227139
4 0.925 0.160 6 32445682 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs7194
rs7194
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs7195
rs7195
2 1.000 0.040 6 32444762 3 prime UTR variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs7192
rs7192
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2213585
rs2213585
2 1.000 0.040 6 32445373 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2213586
rs2213586
2 1.000 0.040 6 32445317 downstream gene variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs9268832
rs9268832
4 0.882 0.160 6 32460012 non coding transcript exon variant T/C snv 0.61 0.59 0.700 1.000 1 2013 2013
dbSNP: rs7754768
rs7754768
2 1.000 0.040 6 32452402 regulatory region variant C/T snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs2239803
rs2239803
4 0.882 0.240 6 32444056 intron variant C/A;T snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs9268853
rs9268853
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs2395185
rs2395185
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs9368726
rs9368726
1 6 32470765 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs9405108
rs9405108
1 6 32470871 intron variant C/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs9271488
rs9271488
1 6 32621223 regulatory region variant G/T snv 0.27 0.700 1.000 1 2013 2013