rs397508750

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508750(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117534329

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508750
dbSNP (classic)	rs397508750
ClinGen	rs397508750
ebi	rs397508750
HLI	rs397508750
Exac	rs397508750
Gnomad	rs397508750
Varsome	rs397508750
LitVar	rs397508750
Map	rs397508750
PheGenI	rs397508750
Biobank	rs397508750
1000 genomes	rs397508750
hgdp	rs397508750
ensembl	rs397508750
geneview	rs397508750
scholar	rs397508750
google	rs397508750
pharmgkb	rs397508750
gwascentral	rs397508750
openSNP	rs397508750
23andMe	rs397508750
SNPshot	rs397508750
SNPdbe	rs397508750
MSV3d	rs397508750
GWAS Ctlg	rs397508750

Max Magnitude

3

Cystic fibrosis' c.543_546delTAGT, Leu183Phefs

ClinVar
Risk	rs397508750(-;-)
Alt	rs397508750(-;-)
Reference	Rs397508750(GTTA;GTTA)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117174383_117174386delTAGT
CLNSRC	CFTR2
CLNACC	RCV000047188.3,