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rs121908792

From SNPedia

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


Make rs121908792(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530898
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908792
ebirs121908792
HLIrs121908792
Exacrs121908792
Varsomers121908792
Maprs121908792
PheGenIrs121908792
hapmaprs121908792
1000 genomesrs121908792
hgdprs121908792
ensemblrs121908792
gopubmedrs121908792
geneviewrs121908792
scholarrs121908792
googlers121908792
pharmgkbrs121908792
gwascentralrs121908792
openSNPrs121908792
23andMers121908792
23andMe allrs121908792
SNP Nexus

SNPshotrs121908792
SNPdbers121908792
MSV3drs121908792
GWAS Ctlgrs121908792
Max Magnitude3
ClinVar
Risk rs121908792(A,C,T;A,C,T)
Alt rs121908792(A,C,T;A,C,T)
Reference rs121908792(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117170952G>A; NC_000007.13:g.117170952G>C; NC_000007.13:g.117170952G>T
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000056370.4, RCV000224434.1, RCV000046673.2, RCV000046674.2,


Cystic fibrosis; c.274-1G>A

named i5010784 and i5010785 by 23andMe

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