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rs121908778

From SNPedia

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


Make rs121908778(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592078
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908778
ebirs121908778
HLIrs121908778
Exacrs121908778
Varsomers121908778
Maprs121908778
PheGenIrs121908778
hapmaprs121908778
1000 genomesrs121908778
hgdprs121908778
ensemblrs121908778
gopubmedrs121908778
geneviewrs121908778
scholarrs121908778
googlers121908778
pharmgkbrs121908778
gwascentralrs121908778
openSNPrs121908778
23andMers121908778
23andMe allrs121908778
SNP Nexus

SNPshotrs121908778
SNPdbers121908778
MSV3drs121908778
GWAS Ctlgrs121908778
Max Magnitude3
ClinVar
Risk rs121908778(A,AC;A,AC)
Alt rs121908778(A,AC;A,AC)
Reference rs121908778(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232132delG
CLNSRC ClinVar LabCorp
CLNACC RCV000029489.2,



[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.


[PMID 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.


[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.


[PMID 9521595] Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).


[PMID 12521276] Cystic fibrosis transmembrane regulator gene mutations in Bahrain.


[PMID 20797923] Mutational spectrum of cystic fibrosis in the Lebanese population.

OMIM602421
Desc
Variant
Relatedalso