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: rs121909211
rs121909211
15 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.900 1.000 29 1998 2019
dbSNP: rs121909210
rs121909210
15 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.040 1.000 4 2000 2010
dbSNP: rs121909209
rs121909209
9 0.763 0.160 5 136056781 missense variant G/A snv 0.020 1.000 2 2000 2012
dbSNP: rs201928238
rs201928238
CA2
4 0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05 0.020 1.000 2 2004 2009
dbSNP: rs1182452266
rs1182452266
3 0.882 0.120 3 149026904 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121909208
rs121909208
13 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121909212
rs121909212
6 0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs142380904
rs142380904
3 0.925 0.160 3 23009845 intergenic variant C/T snv 8.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2012 2012
dbSNP: rs267607201
rs267607201
7 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs527564006
rs527564006
1 1.000 0.080 22 28797159 missense variant T/C snv 4.0E-05 9.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs709932
rs709932
3 0.882 0.160 14 94382864 missense variant C/T snv 0.16 0.12 0.010 1.000 1 2009 2009
dbSNP: rs756283153
rs756283153
AGT
3 0.882 0.160 1 230710465 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs885945
rs885945
1 1.000 0.080 6 29729075 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2009 2009