rs397508227

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	cystic fibrosis carrier

Make rs397508227(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117559644

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508227
dbSNP (classic)	rs397508227
ClinGen	rs397508227
ebi	rs397508227
HLI	rs397508227
Exac	rs397508227
Gnomad	rs397508227
Varsome	rs397508227
LitVar	rs397508227
Map	rs397508227
PheGenI	rs397508227
Biobank	rs397508227
1000 genomes	rs397508227
hgdp	rs397508227
ensembl	rs397508227
geneview	rs397508227
scholar	rs397508227
google	rs397508227
pharmgkb	rs397508227
gwascentral	rs397508227
openSNP	rs397508227
23andMe	rs397508227
SNPshot	rs397508227
SNPdbe	rs397508227
MSV3d	rs397508227
GWAS Ctlg	rs397508227

Max Magnitude

3

Cystic fibrosis; c.1573C>T, p.Gln525Ter

named i5011284 by 23andMe

ClinVar
Risk	rs397508227(T;T)
Alt	rs397508227(T;T)
Reference	Rs397508227(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117199698C>T
CLNSRC	CFTR2
CLNACC	RCV000046342.3,