Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1239043055
rs1239043055
GPHN ; ZFYVE26 ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs202126574
rs202126574
GPHN ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 CausalMutation CLINVAR

dbSNP: rs28940315
rs28940315
GPHN ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR

dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR

dbSNP: rs387906272
rs387906272
GPHN ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR

dbSNP: rs527236099
rs527236099
GPHN ; ZFYVE26 ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR