Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777630
rs587777630
STAT1
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 GeneticVariation BEFREE To our knowledge, this study shows for the first time that a DNA-binding domain mutation of c.1153C>T in exon 14 (p.T385M) is the genetic cause of sporadic CMC in two unrelated Japanese patients. 22730530

2012