rs397508668

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs397508668(AA;AA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117664801

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508668
dbSNP (classic)	rs397508668
ClinGen	rs397508668
ebi	rs397508668
HLI	rs397508668
Exac	rs397508668
Gnomad	rs397508668
Varsome	rs397508668
LitVar	rs397508668
Map	rs397508668
PheGenI	rs397508668
Biobank	rs397508668
1000 genomes	rs397508668
hgdp	rs397508668
ensembl	rs397508668
geneview	rs397508668
scholar	rs397508668
google	rs397508668
pharmgkb	rs397508668
gwascentral	rs397508668
openSNP	rs397508668
23andMe	rs397508668
SNPshot	rs397508668
SNPdbe	rs397508668
MSV3d	rs397508668
GWAS Ctlg	rs397508668

Max Magnitude

3

Cystic fibrosis; c.4077_4080delTGTTinsAA, p.Val1360Thrfs

ClinVar
Risk	rs397508668(AA;AA)
Alt	rs397508668(AA;AA)
Reference	Rs397508668(TGTT;TGTT)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117304855_117304858delTGTTinsAA
CLNSRC	CFTR2
CLNACC	RCV000056390.3,