rs267606723

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117642451

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs267606723
dbSNP (classic)	rs267606723
ClinGen	rs267606723
ebi	rs267606723
HLI	rs267606723
Exac	rs267606723
Gnomad	rs267606723
Varsome	rs267606723
LitVar	rs267606723
Map	rs267606723
PheGenI	rs267606723
Biobank	rs267606723
1000 genomes	rs267606723
hgdp	rs267606723
ensembl	rs267606723
geneview	rs267606723
scholar	rs267606723
google	rs267606723
pharmgkb	rs267606723
gwascentral	rs267606723
openSNP	rs267606723
23andMe	rs267606723
SNPshot	rs267606723
SNPdbe	rs267606723
MSV3d	rs267606723
GWAS Ctlg	rs267606723

Max Magnitude

3

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;A) rs267606723(T;T)
Alt	rs267606723(A;A) rs267606723(T;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	PharmGKB Clinical Annotation UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000056386.3, RCV000211150.1, RCV000007661.2, RCV000046963.2,