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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
ebirs79633941
HLIrs79633941
Exacrs79633941
Varsomers79633941
Maprs79633941
PheGenIrs79633941
hapmaprs79633941
1000 genomesrs79633941
hgdprs79633941
ensemblrs79633941
gopubmedrs79633941
geneviewrs79633941
scholarrs79633941
googlers79633941
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gwascentralrs79633941
openSNPrs79633941
23andMers79633941
23andMe allrs79633941
SNP Nexus

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

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 CFTR2 OMIM Allelic Variant
CLNACC RCV000007625.5,