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rs55928397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier (most likely)
Make rs55928397(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590404
GeneCFTR
is asnp
is mentioned by
dbSNPrs55928397
ebirs55928397
HLIrs55928397
Exacrs55928397
Varsomers55928397
Maprs55928397
PheGenIrs55928397
hapmaprs55928397
1000 genomesrs55928397
hgdprs55928397
ensemblrs55928397
gopubmedrs55928397
geneviewrs55928397
scholarrs55928397
googlers55928397
pharmgkbrs55928397
gwascentralrs55928397
openSNPrs55928397
23andMers55928397
23andMe allrs55928397
SNP Nexus

SNPshotrs55928397
SNPdbers55928397
MSV3drs55928397
GWAS Ctlgrs55928397
Max Magnitude3
ClinVar
Risk rs55928397(T;T)
Alt rs55928397(T;T)
Reference rs55928397(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117230458C>T
CLNSRC ClinVar
CLNACC RCV000029487.2,


[PMID 15463919] Quantitative methods for the analysis of CFTR transcripts/splicing variants.