Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1003869920
rs1003869920
USH2A
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: rs1003869920
rs1003869920
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
dbSNP: rs1003869920
rs1003869920
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. 28157192

2017
dbSNP: rs1003869920
rs1003869920
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011
dbSNP: rs1003869920
rs1003869920
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011