Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894559
rs104894559
CA4
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		T 0.820 CausalMutation CLINVAR

dbSNP: rs104894559
rs104894559
CA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.710 CausalMutation CLINVAR Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508

2005
dbSNP: rs104894559
rs104894559
CA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.710 CausalMutation CLINVAR Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652

2004
dbSNP: rs121434551
rs121434551
CA4
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121434552
rs121434552
CA4
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		A 0.700 CausalMutation CLINVAR