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rs267606723

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 carrier of a cystic fibrosis allele
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier (most likely)
Make rs267606723(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642451
GeneCFTR
is asnp
is mentioned by
dbSNPrs267606723
ebirs267606723
HLIrs267606723
Exacrs267606723
Varsomers267606723
Maprs267606723
PheGenIrs267606723
hapmaprs267606723
1000 genomesrs267606723
hgdprs267606723
ensemblrs267606723
gopubmedrs267606723
geneviewrs267606723
scholarrs267606723
googlers267606723
pharmgkbrs267606723
gwascentralrs267606723
openSNPrs267606723
23andMers267606723
23andMe allrs267606723
SNP Nexus

SNPshotrs267606723
SNPdbers267606723
MSV3drs267606723
GWAS Ctlgrs267606723
Max Magnitude3

Cystic fibrosis; c.3731G>A, p.Gly1244Glu as well as c.3731G>T, p.Gly1244Val

named i5011997, i5006132 and i5011998 by 23andMe

ClinVar
Risk rs267606723(A,T;A,T)
Alt rs267606723(A,T;A,T)
Reference rs267606723(G;G)
Significance Drug-response
Disease Cystic fibrosis ivacaftor response - Efficacy
Variation info
Gene CFTR
CLNDBN Cystic fibrosis ivacaftor response - Efficacy
Reversed 0
HGVS NC_000007.13:g.117282505G>A; NC_000007.13:g.117282505G>T
CLNSRC CFTR2 PharmGKB Clinical Annotation PharmGKB OMIM Allelic Variant
CLNACC RCV000056386.3, RCV000211150.1, RCV000007661.2, RCV000046963.2,