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rs121908793

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs121908793(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535247
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908793
ebirs121908793
HLIrs121908793
Exacrs121908793
Varsomers121908793
Maprs121908793
PheGenIrs121908793
hapmaprs121908793
1000 genomesrs121908793
hgdprs121908793
ensemblrs121908793
gopubmedrs121908793
geneviewrs121908793
scholarrs121908793
googlers121908793
pharmgkbrs121908793
gwascentralrs121908793
openSNPrs121908793
23andMers121908793
23andMe allrs121908793
SNP Nexus

SNPshotrs121908793
SNPdbers121908793
MSV3drs121908793
GWAS Ctlgrs121908793
Max Magnitude3

Cystic fibrosis; c.580-1G>T

named i5010953 by 23andMe

ClinVar
Risk rs121908793(T;T)
Alt rs121908793(T;T)
Reference rs121908793(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117175301G>T
CLNSRC CFTR2
CLNACC RCV000056398.3,



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


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