Source: ALL
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: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.810 1.000 1 1993 1993
dbSNP: rs573750741
rs573750741
CA2 ; CA3-AS1
1 1.000 0.240 8 85465470 splice donor variant G/A snv 4.0E-06 0.700 1.000 1 1992 1992
dbSNP: rs779869368
rs779869368
CA2
1 1.000 0.240 8 85480685 frameshift variant A/- delins 4.0E-06 1.1E-04 0.700 1.000 1 1994 1994
dbSNP: rs118203934
rs118203934
CA2 ; CA3-AS1
1 1.000 0.240 8 85465357 stop gained T/G snv 0.700 0
dbSNP: rs1304160279
rs1304160279
CA2
1 1.000 0.240 8 85473735 missense variant A/C snv 0.700 0
dbSNP: rs1554709677
rs1554709677
CA2 ; CA3-AS1
1 1.000 0.240 8 85464102 stop gained C/A snv 0.700 0