rs397508263

Orientation

plus

Stabilized

plus

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

Make rs397508263(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587834

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508263
dbSNP (classic)	rs397508263
ClinGen	rs397508263
ebi	rs397508263
HLI	rs397508263
Exac	rs397508263
Gnomad	rs397508263
Varsome	rs397508263
LitVar	rs397508263
Map	rs397508263
PheGenI	rs397508263
Biobank	rs397508263
1000 genomes	rs397508263
hgdp	rs397508263
ensembl	rs397508263
geneview	rs397508263
scholar	rs397508263
google	rs397508263
pharmgkb	rs397508263
gwascentral	rs397508263
openSNP	rs397508263
23andMe	rs397508263
SNPshot	rs397508263
SNPdbe	rs397508263
MSV3d	rs397508263
GWAS Ctlg	rs397508263

Max Magnitude

3

ClinVar
Risk	rs397508263(A;A) rs397508263(C;C)
Alt	rs397508263(A;A) rs397508263(C;C)
Reference	Rs397508263(G;G)
Significance	Pathogenic
Disease	Hereditary pancreatitis Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Hereditary pancreatitis Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117227888G>A; NC_000007.13:g.117227888G>C
CLNSRC	CFTR2
CLNACC	RCV000292060.1, RCV000384098.1, RCV000046411.3,