STX1A, syntaxin 1A, 6804

N. diseases: 74; N. variants: 9
Disease: Cystic Fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2228607
rs2228607
Entrez Id: 6804
Gene Symbol: STX1A
STX1A
CUI: C0010674
Disease:
Cystic Fibrosis 		0.010 GeneticVariation BEFREE The same STX1A risk allele was recognized in the European CF Twin and Sibling Study (P=0.0027), demonstrating that the genotype-phenotype association of STX1A to CF disease severity is robust enough to allow replication in two independent CF populations. rs4363087 is in linkage disequilibrium to the exonic variant rs2228607 (c.204C>T). 23572023 2013
dbSNP: rs4363087
rs4363087
Entrez Id: 6804;114049;105375350
Gene Symbol: STX1A;BUD23;LOC105375350
STX1A;BUD23;LOC105375350
CUI: C0010674
Disease:
Cystic Fibrosis 		0.010 GeneticVariation BEFREE The same STX1A risk allele was recognized in the European CF Twin and Sibling Study (P=0.0027), demonstrating that the genotype-phenotype association of STX1A to CF disease severity is robust enough to allow replication in two independent CF populations. rs4363087 is in linkage disequilibrium to the exonic variant rs2228607 (c.204C>T). 23572023 2013