rs397508596

Orientation

plus

Stabilized

plus

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

Make rs397508596(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

117642435

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508596
dbSNP (classic)	rs397508596
ClinGen	rs397508596
ebi	rs397508596
HLI	rs397508596
Exac	rs397508596
Gnomad	rs397508596
Varsome	rs397508596
LitVar	rs397508596
Map	rs397508596
PheGenI	rs397508596
Biobank	rs397508596
1000 genomes	rs397508596
hgdp	rs397508596
ensembl	rs397508596
geneview	rs397508596
scholar	rs397508596
google	rs397508596
pharmgkb	rs397508596
gwascentral	rs397508596
openSNP	rs397508596
23andMe	rs397508596
SNPshot	rs397508596
SNPdbe	rs397508596
MSV3d	rs397508596
GWAS Ctlg	rs397508596

Max Magnitude

3

ClinVar
Risk	rs397508596(C;C) rs397508596(G;G)
Alt	rs397508596(C;C) rs397508596(G;G)
Reference	Rs397508596(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117282489T>G
CLNSRC	CFTR2
CLNACC	RCV000046958.3,