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rs121909001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTT;TTT) 0 common in clinvar
Make rs121909001(-;-)
Make rs121909001(-;TTT)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559593
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909001
ebirs121909001
HLIrs121909001
Exacrs121909001
Varsomers121909001
Maprs121909001
PheGenIrs121909001
hapmaprs121909001
1000 genomesrs121909001
hgdprs121909001
ensemblrs121909001
gopubmedrs121909001
geneviewrs121909001
scholarrs121909001
googlers121909001
pharmgkbrs121909001
gwascentralrs121909001
openSNPrs121909001
23andMers121909001
23andMe allrs121909001
SNP Nexus

SNPshotrs121909001
SNPdbers121909001
MSV3drs121909001
GWAS Ctlgrs121909001
Merged fromRs332
Max Magnitude0

Cystic fibrosis; c.1522_1524delTTT, and also p.Phe508del but *not* "the" delta508 mutation

This SNP is not designated as pathogenic by ClinVar or the CFTR database.


ClinVar
Risk rs121909001(;)
Alt rs121909001(;)
Reference rs121909001(TTT;TTT)
Significance Untested
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199647_117199649delTTT
CLNSRC OMIM Allelic Variant
CLNACC SCV000027724.1, SCV000027724.1,