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rs121908747

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 3 Cystic Fibrosis carrier
(C;C) 0 common in clinvar


Make rs121908747(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627581
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908747
ebirs121908747
HLIrs121908747
Exacrs121908747
Varsomers121908747
Maprs121908747
PheGenIrs121908747
hapmaprs121908747
1000 genomesrs121908747
hgdprs121908747
ensemblrs121908747
gopubmedrs121908747
geneviewrs121908747
scholarrs121908747
googlers121908747
pharmgkbrs121908747
gwascentralrs121908747
openSNPrs121908747
23andMers121908747
23andMe allrs121908747
SNP Nexus

SNPshotrs121908747
SNPdbers121908747
MSV3drs121908747
GWAS Ctlgrs121908747
Max Magnitude3

Cystic fibrosis; c.3528delC, p.Lys1177Serfs

named i4000322 by 23andMe

ClinVar
Risk rs121908747(;)
Alt rs121908747(;)
Reference rs121908747(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267635delC
CLNSRC CFTR2
CLNACC RCV000029523.5,


[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.


[PMID 137921] Double-blind study of ipratropium bromide, a new anticholinergic bronchodilator.


[PMID 8889582] Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.


[PMID 10636451] Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.


[PMID 12865275OA-icon.png] Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.


[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.


[PMID 16051530] Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.