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rs151073129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 cystic fibrosis carrier (most likely)
Make rs151073129(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117536657
GeneCFTR
is asnp
is mentioned by
dbSNPrs151073129
ebirs151073129
HLIrs151073129
Exacrs151073129
Varsomers151073129
Maprs151073129
PheGenIrs151073129
hapmaprs151073129
1000 genomesrs151073129
hgdprs151073129
ensemblrs151073129
gopubmedrs151073129
geneviewrs151073129
scholarrs151073129
googlers151073129
pharmgkbrs151073129
gwascentralrs151073129
openSNPrs151073129
23andMers151073129
23andMe allrs151073129
SNP Nexus

SNPshotrs151073129
SNPdbers151073129
MSV3drs151073129
GWAS Ctlgrs151073129
GMAF0.0004591
Max Magnitude3
ClinVar
Risk rs151073129(T;T)
Alt rs151073129(T;T)
Reference rs151073129(A;A)
Significance Probable-non-pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117176711A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029547.2,


[PMID 16362824] Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.