CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74571530
rs74571530
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0030305
Disease:
Pancreatitis
G 0.700 CausalMutation CLINVAR
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.030 GeneticVariation BEFREE To assess whether CFTR and SPINK1 mutations are co-inherited in pancreatitis, we sequenced SPINK1 gene exon 3 in the 46 patients who were previously identified to be heterozygous for p.Arg75Gln. 24451227 2014
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.030 GeneticVariation BEFREE The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and increases risk of pancreatitis. 20977904 2011
dbSNP: rs1800076
rs1800076
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.030 GeneticVariation BEFREE No other family member (maternal I336K; paternal R75Q; sister I1336K) developed pancreatitis. 10950058 2000
dbSNP: rs397508687
rs397508687
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.020 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731 2008
dbSNP: rs76371115
rs76371115
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.020 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731 2008
dbSNP: rs397508687
rs397508687
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.020 GeneticVariation BEFREE The 'self-destruct' model proposed for the R122H mutation is discussed in connection with the existing theory of pancreatitis, and the basic biochemistry and physiology of trypsinogen, with particular reference to R122 as the primary autolysis site of the cationic trypsinogen. 10909845 2000
dbSNP: rs76371115
rs76371115
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.020 GeneticVariation BEFREE The 'self-destruct' model proposed for the R122H mutation is discussed in connection with the existing theory of pancreatitis, and the basic biochemistry and physiology of trypsinogen, with particular reference to R122 as the primary autolysis site of the cationic trypsinogen. 10909845 2000
dbSNP: rs11971167
rs11971167
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002). 25033378 2014
dbSNP: rs772223589
rs772223589
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE Notably, CFTR mutations not causal for classical cystic fibrosis segregate with unexplained pancreatitis and one of these lies in NBD1 near its ATP-clamp (S573C; close to the Walker B aspartate D572). 20332619 2010
dbSNP: rs397508139
rs397508139
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE No other family member (maternal I336K; paternal R75Q; sister I1336K) developed pancreatitis. 10950058 2000