Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554577402
rs1554577402
Entrez Id: 54845
Gene Symbol: ESRP1
ESRP1
CUI: C4693935
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 109 		G 0.800 CausalMutation CLINVAR ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. 29107558 2017
dbSNP: rs1554577402
rs1554577402
Entrez Id: 54845
Gene Symbol: ESRP1
ESRP1
CUI: C4693935
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 109 		0.800 GeneticVariation UNIPROT ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development. 29107558 2017
dbSNP: rs10956924
rs10956924
Entrez Id: 54845
Gene Symbol: ESRP1
ESRP1
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019