Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1291519904
rs1291519904
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 CausalMutation CLINVAR An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 26763877

2016
dbSNP: rs1291519904
rs1291519904
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 CausalMutation CLINVAR Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province. 27534436

2016
dbSNP: rs1291519904
rs1291519904
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 CausalMutation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
dbSNP: rs1291519904
rs1291519904
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 CausalMutation CLINVAR Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes. 23266159

2013
dbSNP: rs1291519904
rs1291519904
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 CausalMutation CLINVAR Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs1291519904
rs1291519904
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		C 0.800 CausalMutation CLINVAR GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. 12560944

2003