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rs121908779

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;CTCAAAACT) 3 cystic fibrosis carrier


Make rs121908779(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position117592090
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908779
ebirs121908779
HLIrs121908779
Exacrs121908779
Varsomers121908779
Maprs121908779
PheGenIrs121908779
hapmaprs121908779
1000 genomesrs121908779
hgdprs121908779
ensemblrs121908779
gopubmedrs121908779
geneviewrs121908779
scholarrs121908779
googlers121908779
pharmgkbrs121908779
gwascentralrs121908779
openSNPrs121908779
23andMers121908779
23andMe allrs121908779
SNP Nexus

SNPshotrs121908779
SNPdbers121908779
MSV3drs121908779
GWAS Ctlgrs121908779
Max Magnitude3
rs121908779, probably best known as 2055del9>A, is a SNP in the cystic fibrosis CFTR gene.

It has been reported as pathogenic in ClinVar by one submitter (Invitae), however that company's own database does not list it, and 23andMe does not test for it even under one of their 'secret' i-names. If anyone has information definitively indicating something about the pathogenicity of the rare allele of this SNP, which deletes 9 nucleotides and replaces them with a single 'A', please let us know.

ClinVar
Risk rs121908779(A;A)
Alt rs121908779(A;A)
Reference rs121908779(CTCAAAACT;CTCAAAACT)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232144_117232152delCTCAAAACTinsA
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000046508.3,