rs397508298

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508298(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117590442

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508298
dbSNP (classic)	rs397508298
ClinGen	rs397508298
ebi	rs397508298
HLI	rs397508298
Exac	rs397508298
Gnomad	rs397508298
Varsome	rs397508298
LitVar	rs397508298
Map	rs397508298
PheGenI	rs397508298
Biobank	rs397508298
1000 genomes	rs397508298
hgdp	rs397508298
ensembl	rs397508298
geneview	rs397508298
scholar	rs397508298
google	rs397508298
pharmgkb	rs397508298
gwascentral	rs397508298
openSNP	rs397508298
23andMe	rs397508298
SNPshot	rs397508298
SNPdbe	rs397508298
MSV3d	rs397508298
GWAS Ctlg	rs397508298

Max Magnitude

3

Cystic fibrosis; c.1766+3A>G

named i5011413 by 23andMe

ClinVar
Risk	rs397508298(C;C) rs397508298(G;G)
Alt	rs397508298(C;C) rs397508298(G;G)
Reference	Rs397508298(A;A)
Significance	Pathogenic
Disease	Cystic fibrosis Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117230496A>C; NC_000007.13:g.117230496A>G
CLNSRC	CFTR2
CLNACC	RCV000046465.2, RCV000056354.4, RCV000301070.1,