| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. | 30828794 | 2019 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | CHD7 gene and non-syndromic cleft lip and palate. | 16763960 | 2006 |
||||
|
0.700 | GeneticVariation | UNIPROT | CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. | 21554267 | 2012 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. | 15300250 | 2004 |
||||
|
0.700 | GeneticVariation | UNIPROT | Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. | 16400610 | 2006 |