rs397508761

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3.1	possible cystic fibrosis carrier
(A;G)	3	carrier of a cystic fibrosis allele

Make rs397508761(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117534368

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508761
dbSNP (classic)	rs397508761
ClinGen	rs397508761
ebi	rs397508761
HLI	rs397508761
Exac	rs397508761
Gnomad	rs397508761
Varsome	rs397508761
LitVar	rs397508761
Map	rs397508761
PheGenI	rs397508761
Biobank	rs397508761
1000 genomes	rs397508761
hgdp	rs397508761
ensembl	rs397508761
geneview	rs397508761
scholar	rs397508761
google	rs397508761
pharmgkb	rs397508761
gwascentral	rs397508761
openSNP	rs397508761
23andMe	rs397508761
SNPshot	rs397508761
SNPdbe	rs397508761
MSV3d	rs397508761
GWAS Ctlg	rs397508761

Max Magnitude

3.1

Cystic fibrosis; c.579+3A>G

named i5010948, i5010949 and i5010950 by 23andMe

ClinVar
Risk	rs397508761(C;C) rs397508761(G;G) rs397508761(T;T)
Alt	rs397508761(C;C) rs397508761(G;G) rs397508761(T;T)
Reference	Rs397508761(A;A)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117174422A>C; NC_000007.13:g.117174422A>G; NC_000007.13:g.117174422A>T
CLNSRC	CFTR2
CLNACC	RCV000047202.2, RCV000056396.3, RCV000047204.2,