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rs193922504

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 cystic fibrosis carrier (most likely)
(T;T) 0 common in clinvar


Make rs193922504(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587827
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922504
ebirs193922504
HLIrs193922504
Exacrs193922504
Varsomers193922504
Maprs193922504
PheGenIrs193922504
hapmaprs193922504
1000 genomesrs193922504
hgdprs193922504
ensemblrs193922504
gopubmedrs193922504
geneviewrs193922504
scholarrs193922504
googlers193922504
pharmgkbrs193922504
gwascentralrs193922504
openSNPrs193922504
23andMers193922504
23andMe allrs193922504
SNP Nexus

SNPshotrs193922504
SNPdbers193922504
MSV3drs193922504
GWAS Ctlgrs193922504
Max Magnitude3

The CFTR database says this SNP is of unknown significance; ClinVar, citing several sources, indicates it is "likely pathogenic".

named i5011342 by 23andMe

ClinVar
Risk rs193922504(C;C)
Alt rs193922504(C;C)
Reference rs193922504(T;T)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117227881T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029483.2,


[PMID 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

[PMID 7542223] Study of 12 mutations in Turkish cystic fibrosis patients.

[PMID 10798368] Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).

[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

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