Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
A | 0.700 | CausalMutation | CLINVAR | Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? | 25691418 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? | 25691418 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. | 25614871 | 2014 |
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C | 0.700 | CausalMutation | CLINVAR | FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. | 25614871 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. | 22045636 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. | 22045636 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Achondroplasia with synostosis of multiple sutures. | 21739570 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Achondroplasia with synostosis of multiple sutures. | 21739570 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. | 8723101 | 1996 |