| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
ATTAG | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
GTTCATAGCGG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. | 18262054 | 2008 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | BMPR1A mutations in juvenile polyposis affect cellular localization. | 23433720 | 2013 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | BMPR1A mutations in juvenile polyposis affect cellular localization. | 23433720 | 2013 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | BMPR1A mutations in juvenile polyposis affect cellular localization. | 23433720 | 2013 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns. | 14734220 | 2004 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Crystal structure of the BMP-2-BRIA ectodomain complex. | 10881198 | 2000 |