| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. | 23885164 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. | 23115240 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. | 21911584 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. | 21882291 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. | 18235024 | 2008 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |