| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.030 | GeneticVariation | BEFREE | Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2. | 26096762 | 2015 | |||||||
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0.030 | GeneticVariation | BEFREE | Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome. | 22419608 | 2012 | |||||||
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0.030 | GeneticVariation | BEFREE | Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. | 24458596 | 2014 | |||||||
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0.010 | GeneticVariation | BEFREE | Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome. | 22419608 | 2012 | |||||||
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0.010 | GeneticVariation | BEFREE | A missense R16H (47G>A) change was identified in two CRC samples, as well as in the respective normal tissues, but was absent in 209 healthy controls. | 17242703 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Brief report: short stature caused by a mutant growth hormone. | 8552145 | 1996 | |||||||
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0.800 | GeneticVariation | UNIPROT | Biologically inactive growth hormone caused by an amino acid substitution. | 9276733 | 1997 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. | 17519310 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Biologically inactive growth hormone caused by an amino acid substitution. | 9276733 | 1997 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Brief report: short stature caused by a mutant growth hormone. | 8552145 | 1996 | |||||||
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0.800 | GeneticVariation | UNIPROT | Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. | 17519310 | 2007 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion. | 11502836 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). | 9152628 | 1997 | |||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR |