rs189234741, CNGB1

N. diseases: 2
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. 25943428 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686 2011
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686 2011
RETINITIS PIGMENTOSA 45
CUI: C3151066
Disease: RETINITIS PIGMENTOSA 45
0.700 CausalMutation CLINVAR