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rs267606722

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs267606722(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117594977
GeneCFTR
is asnp
is mentioned by
dbSNPrs267606722
ebirs267606722
HLIrs267606722
Exacrs267606722
Varsomers267606722
Maprs267606722
PheGenIrs267606722
hapmaprs267606722
1000 genomesrs267606722
hgdprs267606722
ensemblrs267606722
gopubmedrs267606722
geneviewrs267606722
scholarrs267606722
googlers267606722
pharmgkbrs267606722
gwascentralrs267606722
openSNPrs267606722
23andMers267606722
23andMe allrs267606722
SNP Nexus

SNPshotrs267606722
SNPdbers267606722
MSV3drs267606722
GWAS Ctlgrs267606722
Max Magnitude3

Cystic fibrosis; c.2538G>A, p.Trp846Ter

named i5011582 and i5006062 by 23andMe

ClinVar
Risk rs267606722(A;A)
Alt rs267606722(A;A)
Reference rs267606722(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235031G>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007547.5,