rs397508394

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508394(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117594986

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508394
dbSNP (classic)	rs397508394
ClinGen	rs397508394
ebi	rs397508394
HLI	rs397508394
Exac	rs397508394
Gnomad	rs397508394
Varsome	rs397508394
LitVar	rs397508394
Map	rs397508394
PheGenI	rs397508394
Biobank	rs397508394
1000 genomes	rs397508394
hgdp	rs397508394
ensembl	rs397508394
geneview	rs397508394
scholar	rs397508394
google	rs397508394
pharmgkb	rs397508394
gwascentral	rs397508394
openSNP	rs397508394
23andMe	rs397508394
SNPshot	rs397508394
SNPdbe	rs397508394
MSV3d	rs397508394
GWAS Ctlg	rs397508394

Max Magnitude

3

Cystic fibrosis; c.2547C>A, p.Tyr849Ter

named i5011583 by 23andMe

ClinVar
Risk	rs397508394(A;A)
Alt	rs397508394(A;A)
Reference	Rs397508394(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117235040C>A
CLNSRC	CFTR2
CLNACC	RCV000046615.3,