rs121908757

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	carrier of a cystic fibrosis allele

Make rs121908757(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587799

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908757
dbSNP (classic)	rs121908757
ClinGen	rs121908757
ebi	rs121908757
HLI	rs121908757
Exac	rs121908757
Gnomad	rs121908757
Varsome	rs121908757
LitVar	rs121908757
Map	rs121908757
PheGenI	rs121908757
Biobank	rs121908757
1000 genomes	rs121908757
hgdp	rs121908757
ensembl	rs121908757
geneview	rs121908757
scholar	rs121908757
google	rs121908757
pharmgkb	rs121908757
gwascentral	rs121908757
openSNP	rs121908757
23andMe	rs121908757
SNPshot	rs121908757
SNPdbe	rs121908757
MSV3d	rs121908757
GWAS Ctlg	rs121908757

Max Magnitude

3

Cystic fibrosis; c.1645A>C, p.Ser549Arg

named i5006053 and i5011321 by 23andMe

OMIM	602421
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121908757(C;C)
Alt	rs121908757(C;C)
Reference	Rs121908757(A;A)
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.117227853A>C
CLNSRC	PharmGKB Clinical Annotation
CLNACC	RCV000043664.4, RCV000211346.1,

[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.