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: rs116799036
rs116799036
1 1.000 0.200 6 31381371 downstream gene variant G/A snv 0.030 1.000 3 2013 2015
dbSNP: rs2617170
rs2617170
1 1.000 0.200 12 10408358 missense variant T/C snv 0.63 0.61 0.820 1.000 3 2013 2017
dbSNP: rs7574070
rs7574070
1 1.000 0.200 2 191145762 intron variant A/C snv 0.55 0.810 1.000 3 2012 2015
dbSNP: rs12141431
rs12141431
1 1.000 0.200 1 67281340 downstream gene variant G/C snv 0.23 0.020 0.500 2 2017 2019
dbSNP: rs1805110
rs1805110
3 0.882 0.200 1 91861488 missense variant G/A snv 0.13 0.13 0.020 1.000 2 2012 2015
dbSNP: rs9266406
rs9266406
1 1.000 0.200 6 31368641 intron variant G/A snv 0.22 0.800 1.000 2 2012 2013
dbSNP: rs9266409
rs9266409
5 0.925 0.200 6 31368791 intron variant T/C snv 0.22 0.700 1.000 2 2012 2013
dbSNP: rs10236188
rs10236188
1 1.000 0.200 7 150548168 intergenic variant T/C snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs10256482
rs10256482
1 1.000 0.200 7 150653887 intergenic variant T/C snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs10277380
rs10277380
1 1.000 0.200 7 150533604 intergenic variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10454134
rs10454134
1 1.000 0.200 2 48420887 TF binding site variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs104894559
rs104894559
CA4
3 0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs104895083
rs104895083
2 0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1065407
rs1065407
1 1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs111874856
rs111874856
1 1.000 0.200 18 21028924 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs112108028
rs112108028
1 1.000 0.200 18 20959861 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs112130712
rs112130712
1 1.000 0.200 18 20967783 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs11574944
rs11574944
1 1.000 0.200 16 30498669 intron variant C/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs11769828
rs11769828
1 1.000 0.200 7 150534221 intergenic variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs12119179
rs12119179
2 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs13154629
rs13154629
1 1.000 0.200 5 96786754 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1327295035
rs1327295035
1 1.000 0.200 6 52187730 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1462891
rs1462891
1 1.000 0.200 8 31973417 intron variant T/C snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs149034313
rs149034313
1 1.000 0.200 22 31278338 missense variant C/G;T snv 6.4E-03; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1522596
rs1522596
1 1.000 0.200 7 150538695 downstream gene variant A/G snv 0.47 0.700 1.000 1 2013 2013