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rs144476686

From SNPedia

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


Make rs144476686(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540188
GeneCFTR
is asnp
is mentioned by
dbSNPrs144476686
ebirs144476686
HLIrs144476686
Exacrs144476686
Varsomers144476686
Maprs144476686
PheGenIrs144476686
hapmaprs144476686
1000 genomesrs144476686
hgdprs144476686
ensemblrs144476686
gopubmedrs144476686
geneviewrs144476686
scholarrs144476686
googlers144476686
pharmgkbrs144476686
gwascentralrs144476686
openSNPrs144476686
23andMers144476686
23andMe allrs144476686
SNP Nexus

SNPshotrs144476686
SNPdbers144476686
MSV3drs144476686
GWAS Ctlgrs144476686
Max Magnitude3
ClinVar
Risk rs144476686(G;G)
Alt rs144476686(G;G)
Reference rs144476686(T;T)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180242T>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029549.3,


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


[PMID 20706124] A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.