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rs121908748

From SNPedia

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


Make rs121908748(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590440
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908748
ebirs121908748
HLIrs121908748
Exacrs121908748
Varsomers121908748
Maprs121908748
PheGenIrs121908748
hapmaprs121908748
1000 genomesrs121908748
hgdprs121908748
ensemblrs121908748
gopubmedrs121908748
geneviewrs121908748
scholarrs121908748
googlers121908748
pharmgkbrs121908748
gwascentralrs121908748
openSNPrs121908748
23andMers121908748
23andMe allrs121908748
SNP Nexus

SNPshotrs121908748
SNPdbers121908748
MSV3drs121908748
GWAS Ctlgrs121908748
Max Magnitude3

Cystic fibrosis; c.1766+1G>A, c.1766+1G>C and c.1766+1G>T; the first two are tagged pathogenic in CFTR2, the last is not tagged.

names used by 23andMe for this SNP include: i4000318, i5006139, i5011416, i5011417 and i5011418

ClinVar
Risk rs121908748(A,C,T;A,C,T)
Alt rs121908748(A,C,T;A,C,T)
Reference rs121908748(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117230494G>A; NC_000007.13:g.117230494G>C; NC_000007.13:g.117230494G>T
CLNSRC CFTR2 Cystic Fibrosis Mutation Database OMIM Allelic Variant
CLNACC RCV000007588.8, RCV000046463.3, RCV000046464.2,


[PMID 11866018] Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient.


[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.


[PMID 15371902OA-icon.png] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.


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

OMIM602421
Desc
Variant
Relatedalso