TTC7A, tetratricopeptide repeat domain 7A, 57217

N. diseases: 59; N. variants: 26
Disease: Congenital atresia of colon ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042806
rs886042806
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
CUI: C0266190
Disease:
Congenital atresia of colon 		AC 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016