Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203933
rs118203933
CA2
0.810 GeneticVariation BEFREE Kinetic analysis of a mutant (His107-->Tyr) responsible for human carbonic anhydrase II deficiency syndrome. 8444854

1993
dbSNP: rs118203933
rs118203933
CA2
0.810 GeneticVariation UNIPROT

dbSNP: rs118203933
rs118203933
CA2
T 0.810 CausalMutation CLINVAR

dbSNP: rs779869368
rs779869368
CA2
T 0.700 GeneticVariation CLINVAR Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 8128957

1994
dbSNP: rs573750741
rs573750741
CA2 ; CA3-AS1
A 0.700 CausalMutation CLINVAR A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. 1301935

1992
dbSNP: rs118203934
rs118203934
CA2 ; CA3-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1304160279
rs1304160279
CA2
0.700 GeneticVariation UNIPROT

dbSNP: rs1554709677
rs1554709677
CA2 ; CA3-AS1
A 0.700 CausalMutation CLINVAR