Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs189234741
rs189234741
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. 25943428

2015
dbSNP: rs189234741
rs189234741
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674

2015
dbSNP: rs189234741
rs189234741
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 CausalMutation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686

2011
dbSNP: rs189234741
rs189234741
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686

2011