rs397508416

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508416(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117603531

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508416
dbSNP (classic)	rs397508416
ClinGen	rs397508416
ebi	rs397508416
HLI	rs397508416
Exac	rs397508416
Gnomad	rs397508416
Varsome	rs397508416
LitVar	rs397508416
Map	rs397508416
PheGenI	rs397508416
Biobank	rs397508416
1000 genomes	rs397508416
hgdp	rs397508416
ensembl	rs397508416
geneview	rs397508416
scholar	rs397508416
google	rs397508416
pharmgkb	rs397508416
gwascentral	rs397508416
openSNP	rs397508416
23andMe	rs397508416
SNPshot	rs397508416
SNPdbe	rs397508416
MSV3d	rs397508416
GWAS Ctlg	rs397508416

Max Magnitude

3

Cystic fibrosis; c.2658-1G>T

named i5011622 by 23andMe

ClinVar
Risk	rs397508416(C;C) rs397508416(T;T)
Alt	rs397508416(C;C) rs397508416(T;T)
Reference	Rs397508416(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117243585G>C; NC_000007.13:g.117243585G>T
CLNSRC	CFTR2
CLNACC	RCV000190990.1, RCV000046650.2,