rs397508453

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508453(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117603782

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508453
dbSNP (classic)	rs397508453
ClinGen	rs397508453
ebi	rs397508453
HLI	rs397508453
Exac	rs397508453
Gnomad	rs397508453
Varsome	rs397508453
LitVar	rs397508453
Map	rs397508453
PheGenI	rs397508453
Biobank	rs397508453
1000 genomes	rs397508453
hgdp	rs397508453
ensembl	rs397508453
geneview	rs397508453
scholar	rs397508453
google	rs397508453
pharmgkb	rs397508453
gwascentral	rs397508453
openSNP	rs397508453
23andMe	rs397508453
SNPshot	rs397508453
SNPdbe	rs397508453
MSV3d	rs397508453
GWAS Ctlg	rs397508453

Max Magnitude

3

Cystic fibrosis; c.2908G>C, p.Gly970Arg

named i5011692 by 23andMe

ClinVar
Risk	rs397508453(A;A) rs397508453(C;C)
Alt	rs397508453(A;A) rs397508453(C;C)
Reference	Rs397508453(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117243836G>A; NC_000007.13:g.117243836G>C
CLNSRC	CFTR2
CLNACC	RCV000046712.2, RCV000056374.3,