rs397508748

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4	carrier of a cystic fibrosis allele
(G;G)	0	common/normal

Make rs397508748(A;A)

Reference

GRCh38 38.1/142

Chromosome

7

Position

117534319

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508748
dbSNP (classic)	rs397508748
ClinGen	rs397508748
ebi	rs397508748
HLI	rs397508748
Exac	rs397508748
Gnomad	rs397508748
Varsome	rs397508748
LitVar	rs397508748
Map	rs397508748
PheGenI	rs397508748
Biobank	rs397508748
1000 genomes	rs397508748
hgdp	rs397508748
ensembl	rs397508748
geneview	rs397508748
scholar	rs397508748
google	rs397508748
pharmgkb	rs397508748
gwascentral	rs397508748
openSNP	rs397508748
23andMe	rs397508748
SNPshot	rs397508748
SNPdbe	rs397508748
MSV3d	rs397508748
GWAS Ctlg	rs397508748

Max Magnitude

4

Cystic fibrosis; c.532G>A, Gly178Glu or G178R

named i5010931 by 23andMe

ClinVar
Risk	rs397508748(A;A)
Alt	rs397508748(A;A)
Reference	Rs397508748(G;G)
Significance	Untested
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117174373G>A
CLNSRC
CLNACC	RCV000047184.2,