rs121909041

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121909041(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117642483

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909041
dbSNP (classic)	rs121909041
ClinGen	rs121909041
ebi	rs121909041
HLI	rs121909041
Exac	rs121909041
Gnomad	rs121909041
Varsome	rs121909041
LitVar	rs121909041
Map	rs121909041
PheGenI	rs121909041
Biobank	rs121909041
1000 genomes	rs121909041
hgdp	rs121909041
ensembl	rs121909041
geneview	rs121909041
scholar	rs121909041
google	rs121909041
pharmgkb	rs121909041
gwascentral	rs121909041
openSNP	rs121909041
23andMe	rs121909041
SNPshot	rs121909041
SNPdbe	rs121909041
MSV3d	rs121909041
GWAS Ctlg	rs121909041

Max Magnitude

3

Cystic fibrosis; c.3763T>C, p.Ser1255Pro

named i5006124 by 23andMe

OMIM	602421
Desc
Variant	0113
Related	also

ClinVar
Risk	rs121909041(C;C)
Alt	rs121909041(C;C)
Reference	Rs121909041(T;T)
Significance	Drug-response
Disease	Cystic fibrosis Ivacaftor response
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Ivacaftor response
Reversed	0
HGVS	NC_000007.13:g.117282537T>C
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000007613.3, RCV000211376.1,