Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0410536
Disease: Mesomelic dysplasia
Mesomelic dysplasia 		0.010 GeneticVariation BEFREE We encountered a 2 6/12-year-old Japanese girl with an unclassifiable MD associated with hypoplasia of postaxial toes, and identified a de novo likely pathogenic variant of AFF3 (NM_002285.2:c.697 G > A, p.(Ala233Thr)) by whole exome sequencing. 31388108

2019