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: rs1554392248
rs1554392248
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TGTTAA 0.700 GeneticVariation CLINVAR Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. 15520400 2004
dbSNP: rs1554392248
rs1554392248
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TGTTAA 0.700 GeneticVariation CLINVAR Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. 16493442 2006
dbSNP: rs121908788
rs121908788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TG 0.700 CausalMutation CLINVAR
dbSNP: rs1562911661
rs1562911661
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TG 0.700 CausalMutation CLINVAR
dbSNP: rs397508339
rs397508339
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TG 0.700 CausalMutation CLINVAR Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings. 10925568 2000
dbSNP: rs397508339
rs397508339
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TG 0.700 CausalMutation CLINVAR Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients. 12874665 2003
dbSNP: rs1554397497
rs1554397497
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TCCTA 0.700 GeneticVariation CLINVAR CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. 24586523 2014
dbSNP: rs1554391033
rs1554391033
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens
TCAGA 0.700 GeneticVariation CLINVAR
dbSNP: rs1554391033
rs1554391033
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TCAGA 0.700 GeneticVariation CLINVAR
dbSNP: rs1554391491
rs1554391491
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1263488842
rs1263488842
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TATAGGTGGGATTCTTA 0.700 GeneticVariation CLINVAR
dbSNP: rs1554389486
rs1554389486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TAACG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554380465
rs1554380465
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR
dbSNP: rs1562914838
rs1562914838
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 CausalMutation CLINVAR
dbSNP: rs397508294
rs397508294
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 CausalMutation CLINVAR
dbSNP: rs397508405
rs397508405
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 CausalMutation CLINVAR
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. 25066652 2014
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682 2002
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. 16189704 2005
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Making the diagnosis of cystic fibrosis. 18195584 2008
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. 20144563 2010
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. 24586523 2014
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations. 11101688 2000
dbSNP: rs397508414
rs397508414
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
TA 0.700 GeneticVariation CLINVAR Effect of maternal cystic fibrosis genotype on diabetes in pregnancy. 23168765 2012