rs397508759

Orientation

plus

Stabilized

plus

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

Make rs397508759(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117534363

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508759
dbSNP (classic)	rs397508759
ClinGen	rs397508759
ebi	rs397508759
HLI	rs397508759
Exac	rs397508759
Gnomad	rs397508759
Varsome	rs397508759
LitVar	rs397508759
Map	rs397508759
PheGenI	rs397508759
Biobank	rs397508759
1000 genomes	rs397508759
hgdp	rs397508759
ensembl	rs397508759
geneview	rs397508759
scholar	rs397508759
google	rs397508759
pharmgkb	rs397508759
gwascentral	rs397508759
openSNP	rs397508759
23andMe	rs397508759
SNPshot	rs397508759
SNPdbe	rs397508759
MSV3d	rs397508759
GWAS Ctlg	rs397508759

Max Magnitude

3

ClinVar
Risk	rs397508759(A;A) rs397508759(T;T)
Alt	rs397508759(A;A) rs397508759(T;T)
Reference	Rs397508759(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117174417G>A; NC_000007.13:g.117174417G>T
CLNSRC	UniProtKB (protein) HGMD
CLNACC	RCV000047198.2, RCV000047199.5, RCV000079010.3, RCV000282405.1,