rs121909005

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121909005(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587801

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909005
dbSNP (classic)	rs121909005
ClinGen	rs121909005
ebi	rs121909005
HLI	rs121909005
Exac	rs121909005
Gnomad	rs121909005
Varsome	rs121909005
LitVar	rs121909005
Map	rs121909005
PheGenI	rs121909005
Biobank	rs121909005
1000 genomes	rs121909005
hgdp	rs121909005
ensembl	rs121909005
geneview	rs121909005
scholar	rs121909005
google	rs121909005
pharmgkb	rs121909005
gwascentral	rs121909005
openSNP	rs121909005
23andMe	rs121909005
SNPshot	rs121909005
SNPdbe	rs121909005
MSV3d	rs121909005
GWAS Ctlg	rs121909005

Max Magnitude

3

Cystic fibrosis; c.1647T>G, p.Ser549Arg

named i5011325 and i4000302 by 23andMe

OMIM	602421
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121909005(G;G)
Alt	rs121909005(G;G)
Reference	Rs121909005(T;T)
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.117227855T>G
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000056350.3, RCV000211129.1,