rs397508200

Orientation

plus

Stabilized

plus

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

Make rs397508200(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117559463

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508200
dbSNP (classic)	rs397508200
ClinGen	rs397508200
ebi	rs397508200
HLI	rs397508200
Exac	rs397508200
Gnomad	rs397508200
Varsome	rs397508200
LitVar	rs397508200
Map	rs397508200
PheGenI	rs397508200
Biobank	rs397508200
1000 genomes	rs397508200
hgdp	rs397508200
ensembl	rs397508200
geneview	rs397508200
scholar	rs397508200
google	rs397508200
pharmgkb	rs397508200
gwascentral	rs397508200
openSNP	rs397508200
23andMe	rs397508200
SNPshot	rs397508200
SNPdbe	rs397508200
MSV3d	rs397508200
GWAS Ctlg	rs397508200

Max Magnitude

3

Cystic fibrosis; c.1393-1G>A

named i5006135 and i5011216 by 23andMe

ClinVar
Risk	rs397508200(A;A)
Alt	rs397508200(A;A)
Reference	Rs397508200(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117199517G>A
CLNSRC	CFTR2
CLNACC	RCV000056347.4,