Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503188
rs1060503188
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
G 0.700 GeneticVariation CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794

2019

dbSNP: rs1060503188
rs1060503188
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
T 0.700 CausalMutation CLINVAR