Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224903
rs863224903
NR2F1 ; NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		C 0.700 GeneticVariation CLINVAR The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 26986877

2016