Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
0.020 GeneticVariation BEFREE Patients with classical IGHD phenotype carried a heterozygous variant in GH1: c.626G>A (p.R209H). 31835104

2020
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
0.020 GeneticVariation BEFREE Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion. 11502836

2001