Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569237206
rs1569237206
RPGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 11992260

2002
dbSNP: rs1569237206
rs1569237206
RPGR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 10932196

2000