Source: INFERRED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |
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|
A | 0.800 | CausalMutation | CLINVAR | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |
|||
|
G | 0.800 | GeneticVariation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. | 24888332 | 2014 |
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|
C | 0.800 | CausalMutation | CLINVAR | FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | 23812909 | 2013 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |