| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
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|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
|
GC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.710 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. | 7485151 | 1995 |