rs397508144

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508144(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117540251

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508144
dbSNP (classic)	rs397508144
ClinGen	rs397508144
ebi	rs397508144
HLI	rs397508144
Exac	rs397508144
Gnomad	rs397508144
Varsome	rs397508144
LitVar	rs397508144
Map	rs397508144
PheGenI	rs397508144
Biobank	rs397508144
1000 genomes	rs397508144
hgdp	rs397508144
ensembl	rs397508144
geneview	rs397508144
scholar	rs397508144
google	rs397508144
pharmgkb	rs397508144
gwascentral	rs397508144
openSNP	rs397508144
23andMe	rs397508144
SNPshot	rs397508144
SNPdbe	rs397508144
MSV3d	rs397508144
GWAS Ctlg	rs397508144

Max Magnitude

3

Cystic fibrosis; c.1021T>C, Ser341Pro or S341P

ClinVar
Risk	rs397508144(C;C)
Alt	rs397508144(C;C)
Reference	Rs397508144(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117180305T>C
CLNSRC	CFTR2
CLNACC	RCV000056338.3,