rs397508256

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	carrier of a cystic fibrosis allele
(G;G)	0	common/normal

Make rs397508256(A;A)

Reference

GRCh38 38.1/142

Chromosome

7

Position

117509035

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508256
dbSNP (classic)	rs397508256
ClinGen	rs397508256
ebi	rs397508256
HLI	rs397508256
Exac	rs397508256
Gnomad	rs397508256
Varsome	rs397508256
LitVar	rs397508256
Map	rs397508256
PheGenI	rs397508256
Biobank	rs397508256
1000 genomes	rs397508256
hgdp	rs397508256
ensembl	rs397508256
geneview	rs397508256
scholar	rs397508256
google	rs397508256
pharmgkb	rs397508256
gwascentral	rs397508256
openSNP	rs397508256
23andMe	rs397508256
SNPshot	rs397508256
SNPdbe	rs397508256
MSV3d	rs397508256
GWAS Ctlg	rs397508256

Max Magnitude

3

Cystic fibrosis; c.166G>A, Glu56Lys or E56K

ClinVar
Risk	rs397508256(A;A)
Alt	rs397508256(A;A)
Reference	Rs397508256(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117149089G>A
CLNSRC	CFTR2
CLNACC	RCV000046399.3,