rs397508477

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508477(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117610532

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508477
dbSNP (classic)	rs397508477
ClinGen	rs397508477
ebi	rs397508477
HLI	rs397508477
Exac	rs397508477
Gnomad	rs397508477
Varsome	rs397508477
LitVar	rs397508477
Map	rs397508477
PheGenI	rs397508477
Biobank	rs397508477
1000 genomes	rs397508477
hgdp	rs397508477
ensembl	rs397508477
geneview	rs397508477
scholar	rs397508477
google	rs397508477
pharmgkb	rs397508477
gwascentral	rs397508477
openSNP	rs397508477
23andMe	rs397508477
SNPshot	rs397508477
SNPdbe	rs397508477
MSV3d	rs397508477
GWAS Ctlg	rs397508477

Max Magnitude

3

Cystic fibrosis; c.3002_3003delTG, p.Val1001Aspfs

named i5011739 and i5011741 by 23andMe

ClinVar
Risk	rs397508477(-;-)
Alt	rs397508477(-;-)
Reference	Rs397508477(TG;TG)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117250586_117250587delTG
CLNSRC	CFTR2
CLNACC	RCV000046752.3,