Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514697
rs397514697
STAMBP
A 0.800 CausalMutation CLINVAR Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699

2013
dbSNP: rs397514697
rs397514697
STAMBP
0.800 GeneticVariation UNIPROT Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699

2013