Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1177684571
rs1177684571
EGF
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.010 GeneticVariation BEFREE Whole exome and Sanger sequencing revealed that the one with a novel heterozygous missense (c.2017G>T, p.Gly673Cys) mutation in LTBP3 had clinical features consistent with acromicric dysplasia (ACMICD). 30887145

2019