rs397508709

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508709(GA;GA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117666961

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508709
dbSNP (classic)	rs397508709
ClinGen	rs397508709
ebi	rs397508709
HLI	rs397508709
Exac	rs397508709
Gnomad	rs397508709
Varsome	rs397508709
LitVar	rs397508709
Map	rs397508709
PheGenI	rs397508709
Biobank	rs397508709
1000 genomes	rs397508709
hgdp	rs397508709
ensembl	rs397508709
geneview	rs397508709
scholar	rs397508709
google	rs397508709
pharmgkb	rs397508709
gwascentral	rs397508709
openSNP	rs397508709
23andMe	rs397508709
SNPshot	rs397508709
SNPdbe	rs397508709
MSV3d	rs397508709
GWAS Ctlg	rs397508709

Max Magnitude

3

Cystic fibrosis; c.4296_4297insGA, p.Ser1435Glyfs

named i5012182 by 23andMe

ClinVar
Risk	rs397508709(AG;AG) rs397508709(GA;GA)
Alt	rs397508709(AG;AG) rs397508709(GA;GA)
Reference	Rs397508709(-;-)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117307019_117307020dupAG
CLNSRC	CFTR2
CLNACC	RCV000410620.2,