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rs193922501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier (most likely)
Make rs193922501(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117480108
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922501
ebirs193922501
HLIrs193922501
Exacrs193922501
Varsomers193922501
Maprs193922501
PheGenIrs193922501
hapmaprs193922501
1000 genomesrs193922501
hgdprs193922501
ensemblrs193922501
gopubmedrs193922501
geneviewrs193922501
scholarrs193922501
googlers193922501
pharmgkbrs193922501
gwascentralrs193922501
openSNPrs193922501
23andMers193922501
23andMe allrs193922501
SNP Nexus

SNPshotrs193922501
SNPdbers193922501
MSV3drs193922501
GWAS Ctlgrs193922501
Max Magnitude3
ClinVar
Risk rs193922501(T;T)
Alt rs193922501(T;T)
Reference rs193922501(C;C)
Significance Other
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117120162C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029477.3,


[PMID 18306] Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients with hematological diseases.

[PMID 17235394OA-icon.png] Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

[PMID 17331079] Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

[PMID 17594397] Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.

[PMID 19897426] A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

[PMID 20351101OA-icon.png] Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.