rs397508533

Orientation

plus

Stabilized

plus

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

Make rs397508533(C;C)

Make rs397508533(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

117611735

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508533
dbSNP (classic)	rs397508533
ClinGen	rs397508533
ebi	rs397508533
HLI	rs397508533
Exac	rs397508533
Gnomad	rs397508533
Varsome	rs397508533
LitVar	rs397508533
Map	rs397508533
PheGenI	rs397508533
Biobank	rs397508533
1000 genomes	rs397508533
hgdp	rs397508533
ensembl	rs397508533
geneview	rs397508533
scholar	rs397508533
google	rs397508533
pharmgkb	rs397508533
gwascentral	rs397508533
openSNP	rs397508533
23andMe	rs397508533
SNPshot	rs397508533
SNPdbe	rs397508533
MSV3d	rs397508533
GWAS Ctlg	rs397508533

Max Magnitude

3

ClinVar
Risk	rs397508533(A;A) rs397508533(C;C)
Alt	rs397508533(A;A) rs397508533(C;C)
Reference	Rs397508533(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117251789G>A; NC_000007.13:g.117251789G>C
CLNSRC	CFTR2
CLNACC	RCV000191002.1, RCV000046856.2,