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: rs869025222
rs869025222
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		C 0.700 GeneticVariation CLINVAR Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 27120018 2016
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: rs1553637470
rs1553637470
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs397518481
rs397518481
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397518482
rs397518482
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		CCT 0.700 CausalMutation CLINVAR
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
dbSNP: rs869025221
rs869025221
Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C3809803
Disease:
MICROPHTHALMIA, SYNDROMIC 12 		C 0.700 GeneticVariation CLINVAR