Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912932
rs121912932
0.020 GeneticVariation BEFREE Indeed, indirect evidence supports our hypothesis: (1) the EDS phenotype in the compound heterozygous propositus is more severe than that of his affected daughter with the G1489E [correction] mutation only; (2) his unaffected daughter and mother with the G530S substitution present with thin skin and delayed wound healing; (3) as does the only control individual with the same substitution. 10602121

2000

dbSNP: rs121912932
rs121912932
0.020 GeneticVariation BEFREE Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the alpha1(V) triple-helical domain who was, in addition, heterozygous for a disease-modifying Gly530Ser substitution in the alpha1(V) NH(2)-terminal domain [Giunta and Steinmann, 2000: Am.J. Med.Genet. 11992482

2002