rs397508405

Orientation

plus

Stabilized

plus

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

Make rs397508405(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117595039

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508405
dbSNP (classic)	rs397508405
ClinGen	rs397508405
ebi	rs397508405
HLI	rs397508405
Exac	rs397508405
Gnomad	rs397508405
Varsome	rs397508405
LitVar	rs397508405
Map	rs397508405
PheGenI	rs397508405
Biobank	rs397508405
1000 genomes	rs397508405
hgdp	rs397508405
ensembl	rs397508405
geneview	rs397508405
scholar	rs397508405
google	rs397508405
pharmgkb	rs397508405
gwascentral	rs397508405
openSNP	rs397508405
23andMe	rs397508405
SNPshot	rs397508405
SNPdbe	rs397508405
MSV3d	rs397508405
GWAS Ctlg	rs397508405

Max Magnitude

3

c.2601dupA (p.Val868Serfs), CFTR gene, cystic fibrosis related

ClinVar
Risk	rs397508405(A;A)
Alt	rs397508405(A;A)
Reference	Rs397508405(-;-)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117235094dupA
CLNSRC	CFTR2
CLNACC	RCV000046631.3,