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: rs3094584
rs3094584
1 1.000 0.200 6 31416071 intron variant G/A;T snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3095324
rs3095324
1 1.000 0.200 6 31119356 intron variant C/T snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs386579334
rs386579334
1 1.000 0.200 6 31119356 intron variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs4394274
rs4394274
1 1.000 0.200 6 31350387 intron variant C/A snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs6910516
rs6910516
1 1.000 0.200 6 31376050 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs6933050
rs6933050
5 0.925 0.200 6 31375855 non coding transcript exon variant T/C snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs7775759
rs7775759
6 0.925 0.200 6 31384669 upstream gene variant G/A snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs9266490
rs9266490
1 1.000 0.200 6 31372381 intron variant A/G snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs9268861
rs9268861
2 0.925 0.280 6 32462117 intron variant C/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs936551
rs936551
1 1.000 0.200 4 827702 upstream gene variant A/G snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs9368678
rs9368678
1 1.000 0.200 6 31304686 intron variant T/C snv 9.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs9380217
rs9380217
1 1.000 0.200 6 31083776 downstream gene variant C/T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs10094579
rs10094579
6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2011 2011
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: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2016 2016
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: rs104895094
rs104895094
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2006 2006
dbSNP: rs104895297
rs104895297
MVK
3 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs10515746
rs10515746
2 0.925 0.240 5 157109557 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2003 2003
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: rs10863888
rs10863888
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014