| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | BEFREE | The CHARGE syndrome associated with the R2319C mutation in the CHD7 gene comprised: cystic spaces in the colobomatous optic disc and intrapapillary arterio-venous anastomoses. | 18484313 | 2008 |
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|
A | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. | 16155193 | 2006 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. | 18073582 | 2007 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. | 25472840 | 2014 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. | 15300250 | 2004 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. | 20884005 | 2011 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
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 |