Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.740 | CausalMutation | CLINVAR | Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families. | 22668073 | 2012 |
|||
|
G | 0.740 | CausalMutation | CLINVAR | Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). | 16380907 | 2005 |
|||
|
T | 0.730 | CausalMutation | CLINVAR | ||||||
|
C | 0.720 | GeneticVariation | CLINVAR | ||||||
|
G | 0.720 | CausalMutation | CLINVAR | ||||||
|
A | 0.720 | CausalMutation | CLINVAR | ||||||
|
T | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
GAATGTCATGAACACTG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
GCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCT | 0.700 | CausalMutation | CLINVAR |