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rs193922497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier (most likely)
Make rs193922497(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540284
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922497
ebirs193922497
HLIrs193922497
Exacrs193922497
Varsomers193922497
Maprs193922497
PheGenIrs193922497
hapmaprs193922497
1000 genomesrs193922497
hgdprs193922497
ensemblrs193922497
gopubmedrs193922497
geneviewrs193922497
scholarrs193922497
googlers193922497
pharmgkbrs193922497
gwascentralrs193922497
openSNPrs193922497
23andMers193922497
23andMe allrs193922497
SNP Nexus

SNPshotrs193922497
SNPdbers193922497
MSV3drs193922497
GWAS Ctlgrs193922497
GMAF0.0004591
Max Magnitude3
ClinVar
Risk rs193922497(T;T)
Alt rs193922497(T;T)
Reference rs193922497(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180338C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029469.3,


[PMID 16126774] Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.


[PMID 16189704] Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.


[PMID 18421494OA-icon.png] Mutations at arginine 352 alter the pore architecture of CFTR.


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