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rs121908774

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 3 carrier of a cystic fibrosis allele
(C;C) 0 common in clinvar


Make rs121908774(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540259
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908774
ClinGenrs121908774
ebirs121908774
HLIrs121908774
Exacrs121908774
Varsomers121908774
Maprs121908774
PheGenIrs121908774
hapmaprs121908774
1000 genomesrs121908774
hgdprs121908774
ensemblrs121908774
gopubmedrs121908774
geneviewrs121908774
scholarrs121908774
googlers121908774
pharmgkbrs121908774
gwascentralrs121908774
openSNPrs121908774
23andMers121908774
23andMe allrs121908774
SNP Nexus

SNPshotrs121908774
SNPdbers121908774
MSV3drs121908774
GWAS Ctlgrs121908774
Max Magnitude3
ClinVar
Risk
Alt
Reference Rs121908774(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180313delC
CLNSRC CFTR2
CLNACC RCV000046204.4,



[PMID 9482579] Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).


[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.


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