Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147346345
rs147346345
CDHR1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1477733493
rs1477733493
CDHR1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554857529
rs1554857529
CDHR1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs747425652
rs747425652
CDHR1
CUI: C3552852
Disease: RETINITIS PIGMENTOSA 65
RETINITIS PIGMENTOSA 65 		T 0.700 CausalMutation CLINVAR

dbSNP: rs756678484
rs756678484
CDHR1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. 20087419

2010
dbSNP: rs756678484
rs756678484
CDHR1
CUI: C3552852
Disease: RETINITIS PIGMENTOSA 65
RETINITIS PIGMENTOSA 65 		A 0.700 CausalMutation CLINVAR

dbSNP: rs781781440
rs781781440
CDHR1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		CA 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs781781440
rs781781440
CDHR1
CUI: C3150912
Disease: CONE-ROD DYSTROPHY 15
CONE-ROD DYSTROPHY 15 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs794727197
rs794727197
CDHR1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs794727197
rs794727197
CDHR1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853347
rs878853347
CDHR1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		TC 0.700 GeneticVariation CLINVAR