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rs121908759

From SNPedia

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


Make rs121908759(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592032
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908759
ebirs121908759
HLIrs121908759
Exacrs121908759
Varsomers121908759
Maprs121908759
PheGenIrs121908759
hapmaprs121908759
1000 genomesrs121908759
hgdprs121908759
ensemblrs121908759
gopubmedrs121908759
geneviewrs121908759
scholarrs121908759
googlers121908759
pharmgkbrs121908759
gwascentralrs121908759
openSNPrs121908759
23andMers121908759
23andMe allrs121908759
SNP Nexus

SNPshotrs121908759
SNPdbers121908759
MSV3drs121908759
GWAS Ctlgrs121908759
Max Magnitude3
ClinVar
Risk rs121908759(A;A)
Alt rs121908759(A;A)
Reference rs121908759(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232086G>A
CLNSRC GTR
CLNACC RCV000046498.2,


[PMID 20435887OA-icon.png] C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.