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rs139573311

From SNPedia

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


Make rs139573311(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559471
GeneCFTR
is asnp
is mentioned by
dbSNPrs139573311
ebirs139573311
HLIrs139573311
Exacrs139573311
Varsomers139573311
Maprs139573311
PheGenIrs139573311
hapmaprs139573311
1000 genomesrs139573311
hgdprs139573311
ensemblrs139573311
gopubmedrs139573311
geneviewrs139573311
scholarrs139573311
googlers139573311
pharmgkbrs139573311
gwascentralrs139573311
openSNPrs139573311
23andMers139573311
23andMe allrs139573311
SNP Nexus

SNPshotrs139573311
SNPdbers139573311
MSV3drs139573311
GWAS Ctlgrs139573311
Max Magnitude3

Cystic fibrosis; c.1400T>C, p.Leu467Pro


ClinVar
Risk rs139573311(C;C)
Alt rs139573311(C;C)
Reference rs139573311(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199525T>C
CLNSRC CFTR2
CLNACC RCV000029476.4,


[PMID 20510657] Report of two patients with associated conditions in addition to cystic fibrosis.