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rs121908812

From SNPedia

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


Make rs121908812(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592179
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908812
ebirs121908812
HLIrs121908812
Exacrs121908812
Varsomers121908812
Maprs121908812
PheGenIrs121908812
hapmaprs121908812
1000 genomesrs121908812
hgdprs121908812
ensemblrs121908812
gopubmedrs121908812
geneviewrs121908812
scholarrs121908812
googlers121908812
pharmgkbrs121908812
gwascentralrs121908812
openSNPrs121908812
23andMers121908812
23andMe allrs121908812
SNP Nexus

SNPshotrs121908812
SNPdbers121908812
MSV3drs121908812
GWAS Ctlgrs121908812
Max Magnitude3

Cystic fibrosis; c.2012delT, p.Leu671Terfs

named i5011475 by 23andMe

ClinVar
Risk rs121908812(;)
Alt rs121908812(;)
Reference rs121908812(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232233delT
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000029491.4,



[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 1283149] A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.


[PMID 9162681] [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].


[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.


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

OMIM602421
Desc
Variant
Relatedalso