Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064

2007
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392

2002
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883

2000
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574

1999
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800

1997
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442

1997
dbSNP: rs80338939
rs80338939
GJB2
A 0.700 CausalMutation CLINVAR Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 9328482

1997