Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033334
rs111033334
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.710 GeneticVariation BEFREE Compound heterozygotes for 2 null mutations (Thr80fs and Arg737stop) in MOL0051 suffered from USH2 while compound heterozygotes for 1 of the null mutations and a novel missense mutation (Gly4674Arg) had nonsyndromic RP. 17296898

2007
dbSNP: rs111033334
rs111033334
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		A 0.710 CausalMutation CLINVAR