rs397508158

Orientation

plus

Stabilized

plus

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

Make rs397508158(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117540347

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508158
dbSNP (classic)	rs397508158
ClinGen	rs397508158
ebi	rs397508158
HLI	rs397508158
Exac	rs397508158
Gnomad	rs397508158
Varsome	rs397508158
LitVar	rs397508158
Map	rs397508158
PheGenI	rs397508158
Biobank	rs397508158
1000 genomes	rs397508158
hgdp	rs397508158
ensembl	rs397508158
geneview	rs397508158
scholar	rs397508158
google	rs397508158
pharmgkb	rs397508158
gwascentral	rs397508158
openSNP	rs397508158
23andMe	rs397508158
SNPshot	rs397508158
SNPdbe	rs397508158
MSV3d	rs397508158
GWAS Ctlg	rs397508158

Max Magnitude

3

Cystic fibrosis; c.1116+1G>A

ClinVar
Risk	rs397508158(A;A) rs397508158(C;C)
Alt	rs397508158(A;A) rs397508158(C;C)
Reference	Rs397508158(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117180401G>A; NC_000007.13:g.117180401G>C
CLNSRC	CFTR2
CLNACC	RCV000056340.3, RCV000046235.2,