Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 23559409 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 23559409 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 23559409 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 23559409 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. | 21866095 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. | 12872123 | 2003 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. | 12872123 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
TGACA | 0.700 | CausalMutation | CLINVAR |