rs121908749

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121908749(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117509092

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908749
dbSNP (classic)	rs121908749
ClinGen	rs121908749
ebi	rs121908749
HLI	rs121908749
Exac	rs121908749
Gnomad	rs121908749
Varsome	rs121908749
LitVar	rs121908749
Map	rs121908749
PheGenI	rs121908749
Biobank	rs121908749
1000 genomes	rs121908749
hgdp	rs121908749
ensembl	rs121908749
geneview	rs121908749
scholar	rs121908749
google	rs121908749
pharmgkb	rs121908749
gwascentral	rs121908749
openSNP	rs121908749
23andMe	rs121908749
SNPshot	rs121908749
SNPdbe	rs121908749
MSV3d	rs121908749
GWAS Ctlg	rs121908749

Max Magnitude

3

Cystic fibrosis; c.223C>T, Arg75Ter or R75X

named i5010753 by 23andMe

ClinVar
Risk	rs121908749(T;T)
Alt	rs121908749(T;T)
Reference	Rs121908749(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117149146C>T
CLNSRC	CFTR2 Cystic Fibrosis Mutation Database
CLNACC	RCV000056362.3,

[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.