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

rs80034486

From SNPedia

Cystic Fibrosis related
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G)
(C;G) 3 Cystic fibrosis allele (carrier)
(G;G) 0 common in clinvar


Make rs80034486(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position117652877
GeneCFTR
is asnp
is mentioned by
dbSNPrs80034486
ebirs80034486
HLIrs80034486
Exacrs80034486
Varsomers80034486
Maprs80034486
PheGenIrs80034486
hapmaprs80034486
1000 genomesrs80034486
hgdprs80034486
ensemblrs80034486
gopubmedrs80034486
geneviewrs80034486
scholarrs80034486
googlers80034486
pharmgkbrs80034486
gwascentralrs80034486
openSNPrs80034486
23andMers80034486
23andMe allrs80034486
SNP Nexus

SNPshotrs80034486
SNPdbers80034486
MSV3drs80034486
GWAS Ctlgrs80034486
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.3909C>G, p.Asn1303Lys; note orientation is minus in dbSNP and SNPedia

named i5012079 and i4000311 by 23andMe

OMIM602421
Desc
Variant0032
Relatedalso
ClinVar
Risk rs80034486(C;C)
Alt rs80034486(C;C)
Reference rs80034486(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 1
HGVS NC_000007.13:g.117292931C>G
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007556.9, RCV000224445.1,