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: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs10399805
rs10399805
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1049074086
rs1049074086
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs131451
rs131451
4 0.882 0.120 22 23771357 intron variant C/T snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2013 2013
dbSNP: rs201842024
rs201842024
1 17 34320382 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2071676
rs2071676
4 0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2018 2018
dbSNP: rs281432
rs281432
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs3093030
rs3093030
6 0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3764340
rs3764340
9 0.807 0.280 16 78432540 missense variant C/G snv 7.1E-02 7.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs6691378
rs6691378
6 0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs738791
rs738791
6 0.851 0.120 22 23775338 intron variant C/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013