TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Disease: Cystic Fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1982073
rs1982073
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.020 GeneticVariation BEFREE We used a family-based approach to test for association between lung function and two functional SNPs (rs1800469, '-509' and rs1982073, 'codon 10') in the 5' region of transforming growth factor-beta1 (TGFB1), a putative CF modifier gene. 18424453 2008
dbSNP: rs1982073
rs1982073
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.020 GeneticVariation BEFREE Maternal and paternal genotype distributions were significantly different at rs1982073 (Leu10Pro at TGFbeta1) whereby all CF sibs heterozygous at rs1982073 inherited the Leu10 allele from their mother (P=0.000132) in our sibling panel. 17406643 2007
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0010674
Disease:
Cystic Fibrosis 		0.010 GeneticVariation BEFREE We used a family-based approach to test for association between lung function and two functional SNPs (rs1800469, '-509' and rs1982073, 'codon 10') in the 5' region of transforming growth factor-beta1 (TGFB1), a putative CF modifier gene. 18424453 2008
dbSNP: rs1800470
rs1800470
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.010 GeneticVariation BEFREE Maternal and paternal genotype distributions were significantly different at rs1982073 (Leu10Pro at TGFbeta1) whereby all CF sibs heterozygous at rs1982073 inherited the Leu10 allele from their mother (P=0.000132) in our sibling panel. 17406643 2007