rs121909017

Orientation

plus

Stabilized

plus

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

Make rs121909017(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117559546

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909017
dbSNP (classic)	rs121909017
ClinGen	rs121909017
ebi	rs121909017
HLI	rs121909017
Exac	rs121909017
Gnomad	rs121909017
Varsome	rs121909017
LitVar	rs121909017
Map	rs121909017
PheGenI	rs121909017
Biobank	rs121909017
1000 genomes	rs121909017
hgdp	rs121909017
ensembl	rs121909017
geneview	rs121909017
scholar	rs121909017
google	rs121909017
pharmgkb	rs121909017
gwascentral	rs121909017
openSNP	rs121909017
23andMe	rs121909017
SNPshot	rs121909017
SNPdbe	rs121909017
MSV3d	rs121909017
GWAS Ctlg	rs121909017

Max Magnitude

3

Cystic fibrosis; c.1475C>T, p.Ser492Phe

named i5006080 by 23andMe

OMIM	602421
Desc
Variant	0051
Related	also

ClinVar
Risk	rs121909017(T;T)
Alt	rs121909017(T;T)
Reference	Rs121909017(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117199600C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007575.5,