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rs193922500

From SNPedia

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


Make rs193922500(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117548798
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922500
ebirs193922500
HLIrs193922500
Exacrs193922500
Varsomers193922500
Maprs193922500
PheGenIrs193922500
hapmaprs193922500
1000 genomesrs193922500
hgdprs193922500
ensemblrs193922500
gopubmedrs193922500
geneviewrs193922500
scholarrs193922500
googlers193922500
pharmgkbrs193922500
gwascentralrs193922500
openSNPrs193922500
23andMers193922500
23andMe allrs193922500
SNP Nexus

SNPshotrs193922500
SNPdbers193922500
MSV3drs193922500
GWAS Ctlgrs193922500
Max Magnitude3
ClinVar
Risk rs193922500(C;C)
Alt rs193922500(C;C)
Reference rs193922500(T;T)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117188852T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029474.2,


[PMID 12357328] Demographics of the UK cystic fibrosis population: implications for neonatal screening.


[PMID 12544470] Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.


[PMID 14998948] Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.


[PMID 17035430] Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.


[PMID 17968991] Cystic fibrosis in India.