Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852679
rs137852679
STAT1
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.010 GeneticVariation BEFREE The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail segment domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain. 22573496

2012