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rs121908744

From SNPedia

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


Make rs121908744(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540178
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908744
ebirs121908744
HLIrs121908744
Exacrs121908744
Varsomers121908744
Maprs121908744
PheGenIrs121908744
hapmaprs121908744
1000 genomesrs121908744
hgdprs121908744
ensemblrs121908744
gopubmedrs121908744
geneviewrs121908744
scholarrs121908744
googlers121908744
pharmgkbrs121908744
gwascentralrs121908744
openSNPrs121908744
23andMers121908744
23andMe allrs121908744
SNP Nexus

SNPshotrs121908744
SNPdbers121908744
MSV3drs121908744
GWAS Ctlgrs121908744
Max Magnitude3

Cystic fibrosis; c.948delT or 1078delT or Phe316Leufs

named i4000316 and i5011056 by 23andMe

OMIM602421
Desc
Variant0059
Relatedalso
ClinVar
Risk rs121908744(;)
Alt rs121908744(;)
Reference rs121908744(T;T)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117180232delT
CLNSRC CFTR2 Cystic Fibrosis Mutation Database HGMD OMIM Allelic Variant
CLNACC RCV000007583.6, RCV000079016.3,


[PMID 1379211] A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.


[PMID 19324992OA-icon.png] Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.