Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142322800
rs142322800
FCGR3A
0.010 GeneticVariation BEFREE A homozygous <i>PIGT</i> variant c.550G>A (p. E184K) in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay was identified by panel sequencing. 29868109

2018