Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. 25534311 2015
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. 25745186 2015
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. 24417819 2014
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT TTC7A mutations disrupt intestinal epithelial apicobasal polarity. 24292712 2014
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. 24931897 2014
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. 25546680 2014
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. 23830146 2013
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. 23423984 2013
dbSNP: rs587776972
rs587776972
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587776972
rs587776972
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs876657393
rs876657393
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs13393256
rs13393256
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1057516047
rs1057516047
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		T 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
dbSNP: rs1057516047
rs1057516047
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0242855
Disease:
Congenital atresia of pulmonary valve 		T 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
dbSNP: rs1057516047
rs1057516047
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0018818
Disease:
Ventricular Septal Defects 		T 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
dbSNP: rs1057516047
rs1057516047
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0021828
Disease:
Intestinal Atresia 		T 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
dbSNP: rs139010200
rs139010200
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. 25534311 2015
dbSNP: rs139010200
rs139010200
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. 25745186 2015
dbSNP: rs149602485
rs149602485
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. 25745186 2015
dbSNP: rs149602485
rs149602485
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. 25534311 2015
dbSNP: rs139010200
rs139010200
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. 24417819 2014
dbSNP: rs139010200
rs139010200
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. 24931897 2014
dbSNP: rs139010200
rs139010200
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. 25546680 2014
dbSNP: rs139010200
rs139010200
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT TTC7A mutations disrupt intestinal epithelial apicobasal polarity. 24292712 2014
dbSNP: rs149602485
rs149602485
Entrez Id: 57217;285051
Gene Symbol: TTC7A;STPG4
TTC7A;STPG4
CUI: C0220744
Disease:
Multiple gastrointestinal atresias (disorder) 		0.700 GeneticVariation UNIPROT TTC7A mutations disrupt intestinal epithelial apicobasal polarity. 24292712 2014