rs1369410594, PTK7

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
0.010 GeneticVariation BEFREE We identified three rare (MAF <0.001) missense heterozygous PTK7 variants (NM_001270398.1:c.581C>T, p.Arg630Ser and p.Tyr725Phe) in the spina bifida patients. 30689296 2019