rs121908755

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121908755(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587800

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908755
dbSNP (classic)	rs121908755
ClinGen	rs121908755
ebi	rs121908755
HLI	rs121908755
Exac	rs121908755
Gnomad	rs121908755
Varsome	rs121908755
LitVar	rs121908755
Map	rs121908755
PheGenI	rs121908755
Biobank	rs121908755
1000 genomes	rs121908755
hgdp	rs121908755
ensembl	rs121908755
geneview	rs121908755
scholar	rs121908755
google	rs121908755
pharmgkb	rs121908755
gwascentral	rs121908755
openSNP	rs121908755
23andMe	rs121908755
SNPshot	rs121908755
SNPdbe	rs121908755
MSV3d	rs121908755
GWAS Ctlg	rs121908755

Merged from

Rs121909003, Rs121909004

Max Magnitude

3

Cystic fibrosis; c.1646G>A, p.Ser549Asn as well as c.1646G>T, p.Ser549Ile

named i4000301, i5011323 and i5011324 by 23andMe

OMIM	602421
Desc
Variant	0011
Related	also

OMIM	602421
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121908755(A;A) rs121908755(T;T)
Alt	rs121908755(A;A) rs121908755(T;T)
Reference	Rs121908755(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.117227854G>A; NC_000007.13:g.117227854G>T
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000007536.6, RCV000211264.1, RCV000007537.4,