rs397508176

Orientation

plus

Stabilized

plus

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

Make rs397508176(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117542109

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508176
dbSNP (classic)	rs397508176
ClinGen	rs397508176
ebi	rs397508176
HLI	rs397508176
Exac	rs397508176
Gnomad	rs397508176
Varsome	rs397508176
LitVar	rs397508176
Map	rs397508176
PheGenI	rs397508176
Biobank	rs397508176
1000 genomes	rs397508176
hgdp	rs397508176
ensembl	rs397508176
geneview	rs397508176
scholar	rs397508176
google	rs397508176
pharmgkb	rs397508176
gwascentral	rs397508176
openSNP	rs397508176
23andMe	rs397508176
SNPshot	rs397508176
SNPdbe	rs397508176
MSV3d	rs397508176
GWAS Ctlg	rs397508176

Max Magnitude

3

Cystic fibrosis; c.1209+1G>A

named i5011170 by 23andMe

ClinVar
Risk	rs397508176(A;A) rs397508176(T;T)
Alt	rs397508176(A;A) rs397508176(T;T)
Reference	Rs397508176(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117182163G>A; NC_000007.13:g.117182163G>T
CLNSRC	CFTR2
CLNACC	RCV000056345.3, RCV000409393.1,