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: rs104894559
rs104894559
CA4
3 0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04 0.820 1.000 5 2005 2010
dbSNP: rs1245199379
rs1245199379
CA4
2 0.925 0.080 17 60150068 missense variant G/A snv 4.5E-06 7.0E-06 0.700 1.000 3 2005 2010
dbSNP: rs121434551
rs121434551
CA4
1 1.000 0.080 17 60158357 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs121434552
rs121434552
CA4
1 1.000 0.080 17 60156653 missense variant G/A snv 4.4E-05; 4.0E-06 0.700 0