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rs144055758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 cystic fibrosis carrier (most likely)
Make rs144055758(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610625
GeneCFTR
is asnp
is mentioned by
dbSNPrs144055758
ebirs144055758
HLIrs144055758
Exacrs144055758
Varsomers144055758
Maprs144055758
PheGenIrs144055758
hapmaprs144055758
1000 genomesrs144055758
hgdprs144055758
ensemblrs144055758
gopubmedrs144055758
geneviewrs144055758
scholarrs144055758
googlers144055758
pharmgkbrs144055758
gwascentralrs144055758
openSNPrs144055758
23andMers144055758
23andMe allrs144055758
SNP Nexus

SNPshotrs144055758
SNPdbers144055758
MSV3drs144055758
GWAS Ctlgrs144055758
Max Magnitude3
ClinVar
Risk rs144055758(G;G)
Alt rs144055758(G;G)
Reference rs144055758(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250679A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029516.2,


[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

[PMID 12133923] Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.

[PMID 16801189] Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

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