Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039235
rs886039235
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
CUI: C2931461
Disease:
Forney Robinson Pascoe syndrome
0.800 GeneticVariation UNIPROT Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. 27426734 2016
dbSNP: rs886039235
rs886039235
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
CUI: C2931461
Disease:
Forney Robinson Pascoe syndrome
A 0.800 CausalMutation CLINVAR