rs80282562

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	cystic fibrosis carrier

Make rs80282562(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

117534318

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs80282562
dbSNP (classic)	rs80282562
ClinGen	rs80282562
ebi	rs80282562
HLI	rs80282562
Exac	rs80282562
Gnomad	rs80282562
Varsome	rs80282562
LitVar	rs80282562
Map	rs80282562
PheGenI	rs80282562
Biobank	rs80282562
1000 genomes	rs80282562
hgdp	rs80282562
ensembl	rs80282562
geneview	rs80282562
scholar	rs80282562
google	rs80282562
pharmgkb	rs80282562
gwascentral	rs80282562
openSNP	rs80282562
23andMe	rs80282562
SNPshot	rs80282562
SNPdbe	rs80282562
MSV3d	rs80282562
GWAS Ctlg	rs80282562

Max Magnitude

3

ClinVar
Risk	rs80282562(T;T)
Alt	rs80282562(T;T)
Reference	Rs80282562(C;C)
Significance	Drug-response
Disease	Cystic fibrosis ivacaftor response - Efficacy
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis ivacaftor response - Efficacy
Reversed	1
HGVS	NC_000007.13:g.117174372G>A
CLNSRC	PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000056394.3, RCV000211246.1,