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rs121908811

From SNPedia

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


Make rs121908811(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627712
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908811
ebirs121908811
HLIrs121908811
Exacrs121908811
Varsomers121908811
Maprs121908811
PheGenIrs121908811
hapmaprs121908811
1000 genomesrs121908811
hgdprs121908811
ensemblrs121908811
gopubmedrs121908811
geneviewrs121908811
scholarrs121908811
googlers121908811
pharmgkbrs121908811
gwascentralrs121908811
openSNPrs121908811
23andMers121908811
23andMe allrs121908811
SNP Nexus

SNPshotrs121908811
SNPdbers121908811
MSV3drs121908811
GWAS Ctlgrs121908811
Max Magnitude3

Cystic fibrosis; c.3659delC, p.Thr1220Lysfs

named i5011968 by 23andMe

ClinVar
Risk rs121908811(;)
Alt rs121908811(;)
Reference rs121908811(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267766delC
CLNSRC CFTR2 Cystic Fibrosis Mutation Database OMIM Allelic Variant
CLNACC RCV000007544.5,


[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.


[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.