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rs79850223

From SNPedia

Cystic Fibrosis related
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
(G;G) 0 common in complete genomics
Make rs79850223(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627525
GeneCFTR
is asnp
is mentioned by
dbSNPrs79850223
ebirs79850223
HLIrs79850223
Exacrs79850223
Varsomers79850223
Maprs79850223
PheGenIrs79850223
hapmaprs79850223
1000 genomesrs79850223
hgdprs79850223
ensemblrs79850223
gopubmedrs79850223
geneviewrs79850223
scholarrs79850223
googlers79850223
pharmgkbrs79850223
gwascentralrs79850223
openSNPrs79850223
23andMers79850223
23andMe allrs79850223
SNP Nexus

SNPshotrs79850223
SNPdbers79850223
MSV3drs79850223
GWAS Ctlgrs79850223
Max Magnitude3

Cystic fibrosis; c.3472C>T, p.Arg1158Ter

likely to be strand-confused in dbSNP; note also multiple alternative alleles

named i5011927, i5006074 and i5053841 by 23andMe?

OMIM602421
Desc
Variant0039
Relatedalso
ClinVar
Risk rs79850223(A,G,T;A,G,T)
Alt rs79850223(A,G,T;A,G,T)
Reference rs79850223(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267579C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007564.5,