RARB, retinoic acid receptor beta, 5915

N. diseases: 254; N. variants: 34
Disease: MICROPHTHALMIA, SYNDROMIC 12 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518483
rs397518483
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		T 0.700 CausalMutation CLINVAR Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. 24075189 2013
dbSNP: rs397518483
rs397518483
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397518483
rs397518483
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		A 0.700 CausalMutation CLINVAR