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rs140455771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140455771(C;T)
Make rs140455771(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position117592416
GeneCFTR
is asnp
is mentioned by
dbSNPrs140455771
dbSNP (old)rs140455771
ClinGenrs140455771
ebirs140455771
HLIrs140455771
Exacrs140455771
Gnomadrs140455771
Varsomers140455771
LitVarrs140455771
Maprs140455771
PheGenIrs140455771
Biobankrs140455771
1000 genomesrs140455771
hgdprs140455771
ensemblrs140455771
gopubmedrs140455771
geneviewrs140455771
scholarrs140455771
googlers140455771
pharmgkbrs140455771
gwascentralrs140455771
openSNPrs140455771
23andMers140455771
23andMe allrs140455771
SNPshotrs140455771
SNPdbers140455771
MSV3drs140455771
GWAS Ctlgrs140455771
Max Magnitude0
ClinVar
Risk rs140455771(T;T)
Alt rs140455771(T;T)
Reference Rs140455771(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis not provided not specified
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided not specified
Reversed 0
HGVS NC_000007.13:g.117232470C>T
CLNSRC HGMD
CLNACC RCV000046561.2, RCV000078984.6, RCV000259063.1,