rs397508174

Orientation

plus

Stabilized

plus

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

Make rs397508174(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117542101

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508174
dbSNP (classic)	rs397508174
ClinGen	rs397508174
ebi	rs397508174
HLI	rs397508174
Exac	rs397508174
Gnomad	rs397508174
Varsome	rs397508174
LitVar	rs397508174
Map	rs397508174
PheGenI	rs397508174
Biobank	rs397508174
1000 genomes	rs397508174
hgdp	rs397508174
ensembl	rs397508174
geneview	rs397508174
scholar	rs397508174
google	rs397508174
pharmgkb	rs397508174
gwascentral	rs397508174
openSNP	rs397508174
23andMe	rs397508174
SNPshot	rs397508174
SNPdbe	rs397508174
MSV3d	rs397508174
GWAS Ctlg	rs397508174

Max Magnitude

3

Cystic fibrosis; c.1202G>A, p.Trp401Ter

named i5011161 by 23andMe

ClinVar
Risk	rs397508174(A;A) rs397508174(T;T)
Alt	rs397508174(A;A) rs397508174(T;T)
Reference	Rs397508174(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117182155G>A
CLNSRC	CFTR2
CLNACC	RCV000056343.3,