Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | HID and KID syndromes are associated with the same connexin 26 mutation. | 12072059 | 2002 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
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 |
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|
C | 0.700 | CausalMutation | CLINVAR | A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. | 17666888 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. | 12172392 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. | 10713883 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. | 10376574 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. | 9336442 | 1997 |
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|
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 |
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|
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 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |