rs121909013

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	cystic fibrosis carrier
(G;G)	0	common in clinvar

Make rs121909013(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587805

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909013
dbSNP (classic)	rs121909013
ClinGen	rs121909013
ebi	rs121909013
HLI	rs121909013
Exac	rs121909013
Gnomad	rs121909013
Varsome	rs121909013
LitVar	rs121909013
Map	rs121909013
PheGenI	rs121909013
Biobank	rs121909013
1000 genomes	rs121909013
hgdp	rs121909013
ensembl	rs121909013
geneview	rs121909013
scholar	rs121909013
google	rs121909013
pharmgkb	rs121909013
gwascentral	rs121909013
openSNP	rs121909013
23andMe	rs121909013
SNPshot	rs121909013
SNPdbe	rs121909013
MSV3d	rs121909013
GWAS Ctlg	rs121909013

Max Magnitude

3

Cystic fibrosis; c.1651G>A, p.Gly551Ser

named i5006072 and i5011329 by 23andMe

OMIM	602421
Desc
Variant	0037
Related	also

ClinVar
Risk	rs121909013(A;A)
Alt	rs121909013(A;A)
Reference	Rs121909013(G;G)
Significance	Drug-response
Disease	Cystic fibrosis ivacaftor response - Efficacy not provided
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis ivacaftor response - Efficacy not provided
Reversed	0
HGVS	NC_000007.13:g.117227859G>A
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000007562.3, RCV000211256.1, RCV000224595.1,