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 0.040 1.000 4 1998 2007
dbSNP: rs121909208
rs121909208
13 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.030 1.000 3 2001 2003
dbSNP: rs121909210
rs121909210
15 0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2001 2002
dbSNP: rs1052006472
rs1052006472
5 0.827 0.200 5 136060907 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs121909209
rs121909209
9 0.763 0.160 5 136056781 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1411887514
rs1411887514
2 0.925 0.080 17 82766304 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs201928238
rs201928238
CA2
4 0.851 0.160 8 85480683 missense variant G/A snv 1.4E-04 8.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs757933370
rs757933370
2 0.925 0.080 5 136046373 missense variant G/A;T snv 1.5E-04; 4.0E-06 0.010 1.000 1 2006 2006