rs397508249

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508249(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117509033

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508249
dbSNP (classic)	rs397508249
ClinGen	rs397508249
ebi	rs397508249
HLI	rs397508249
Exac	rs397508249
Gnomad	rs397508249
Varsome	rs397508249
LitVar	rs397508249
Map	rs397508249
PheGenI	rs397508249
Biobank	rs397508249
1000 genomes	rs397508249
hgdp	rs397508249
ensembl	rs397508249
geneview	rs397508249
scholar	rs397508249
google	rs397508249
pharmgkb	rs397508249
gwascentral	rs397508249
openSNP	rs397508249
23andMe	rs397508249
SNPshot	rs397508249
SNPdbe	rs397508249
MSV3d	rs397508249
GWAS Ctlg	rs397508249

Max Magnitude

3

cystic fibrosis; c.165-1G>A

ClinVar
Risk	rs397508249(A;A)
Alt	rs397508249(A;A)
Reference	Rs397508249(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117149087G>A
CLNSRC	CFTR2
CLNACC	RCV000046382.4, RCV000280788.1,