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rs193922511

From SNPedia

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


Make rs193922511(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603687
GeneCFTR
is asnp
is mentioned by
dbSNPrs193922511
ebirs193922511
HLIrs193922511
Exacrs193922511
Varsomers193922511
Maprs193922511
PheGenIrs193922511
hapmaprs193922511
1000 genomesrs193922511
hgdprs193922511
ensemblrs193922511
gopubmedrs193922511
geneviewrs193922511
scholarrs193922511
googlers193922511
pharmgkbrs193922511
gwascentralrs193922511
openSNPrs193922511
23andMers193922511
23andMe allrs193922511
SNP Nexus

SNPshotrs193922511
SNPdbers193922511
MSV3drs193922511
GWAS Ctlgrs193922511
Max Magnitude3
ClinVar
Risk rs193922511(G;G)
Alt rs193922511(G;G)
Reference rs193922511(T;T)
Significance Pathogenic
Disease Congenital bilateral absence of the vas deferens Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Congenital bilateral absence of the vas deferens Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243741T>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029505.1, RCV000046693.2,


[PMID 92721] Diatoms in lung tissue.


[PMID 10755189] CFTR gene mutations and male infertility.


[PMID 17175965] [Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation].


[PMID 17329263] Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.


[PMID 17507277] [Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)].


[PMID 20059485] Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?