Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Brief report: short stature caused by a mutant growth hormone. | 8552145 | 1996 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Brief report: short stature caused by a mutant growth hormone. | 8552145 | 1996 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). | 9152628 | 1997 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Biologically inactive growth hormone caused by an amino acid substitution. | 9276733 | 1997 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Biologically inactive growth hormone caused by an amino acid substitution. | 9276733 | 1997 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | These results indicate that the D112G mutation in the GH-1 gene causes production of bioinactive GH, which prevents dimerization of GHR and is therefore responsible for the patient's short stature. | 9276733 | 1997 | |||||||
|
|
|
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 | |||||||
|
|
|
0.030 | GeneticVariation | BEFREE | Together, the experiments seem to support the hypothesis that R183H mutant GH severely impaired the GH-regulated secretion and may, therefore, be the cause of this specific form of isolated GH deficiency type II. | 11502836 | 2001 |