rs139573311

Orientation

plus

Stabilized

plus

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

Make rs139573311(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117559471

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs139573311
dbSNP (classic)	rs139573311
ClinGen	rs139573311
ebi	rs139573311
HLI	rs139573311
Exac	rs139573311
Gnomad	rs139573311
Varsome	rs139573311
LitVar	rs139573311
Map	rs139573311
PheGenI	rs139573311
Biobank	rs139573311
1000 genomes	rs139573311
hgdp	rs139573311
ensembl	rs139573311
geneview	rs139573311
scholar	rs139573311
google	rs139573311
pharmgkb	rs139573311
gwascentral	rs139573311
openSNP	rs139573311
23andMe	rs139573311
SNPshot	rs139573311
SNPdbe	rs139573311
MSV3d	rs139573311
GWAS Ctlg	rs139573311

Max Magnitude

3

Cystic fibrosis; c.1400T>C, p.Leu467Pro

ClinVar
Risk	rs139573311(C;C)
Alt	rs139573311(C;C)
Reference	Rs139573311(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117199525T>C
CLNSRC	CFTR2
CLNACC	RCV000029476.4,

[PMID 20510657] Report of two patients with associated conditions in addition to cystic fibrosis.