Have questions? Visit https://www.reddit.com/r/SNPedia

rs79633941

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs79633941(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603542
GeneCFTR
is asnp
is mentioned by
dbSNPrs79633941
dbSNP (classic)rs79633941
ClinGenrs79633941
ebirs79633941
HLIrs79633941
Exacrs79633941
Gnomadrs79633941
Varsomers79633941
LitVarrs79633941
Maprs79633941
PheGenIrs79633941
Biobankrs79633941
1000 genomesrs79633941
hgdprs79633941
ensemblrs79633941
geneviewrs79633941
scholarrs79633941
googlers79633941
pharmgkbrs79633941
gwascentralrs79633941
openSNPrs79633941
23andMers79633941
SNPshotrs79633941
SNPdbers79633941
MSV3drs79633941
GWAS Ctlgrs79633941
Max Magnitude3

Cystic fibrosis; c.2668C>T, p.Gln890Ter

names used by 23andMe for this SNP include: i5006113, i5011627 and i5053834

FTDNA & MyHeritage name: VG07S29361

OMIM602421
Desc
Variant0099
Relatedalso
ClinVar
Risk rs79633941(T;T)
Alt rs79633941(T;T)
Reference Rs79633941(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243596C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007625.5,