rs397508189

Orientation

plus

Stabilized

plus

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

Make rs397508189(AGAT;AGAT)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117548760

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508189
dbSNP (classic)	rs397508189
ClinGen	rs397508189
ebi	rs397508189
HLI	rs397508189
Exac	rs397508189
Gnomad	rs397508189
Varsome	rs397508189
LitVar	rs397508189
Map	rs397508189
PheGenI	rs397508189
Biobank	rs397508189
1000 genomes	rs397508189
hgdp	rs397508189
ensembl	rs397508189
geneview	rs397508189
scholar	rs397508189
google	rs397508189
pharmgkb	rs397508189
gwascentral	rs397508189
openSNP	rs397508189
23andMe	rs397508189
SNPshot	rs397508189
SNPdbe	rs397508189
MSV3d	rs397508189
GWAS Ctlg	rs397508189

Merged from

Rs746521543, Rs786204587

Max Magnitude

3

Cystic fibrosis; c.1329_1330insAGAT, p.Ile444Argfs

ClinVar
Risk	rs397508189(AGAT;AGAT) rs397508189(GATA;GATA)
Alt	rs397508189(AGAT;AGAT) rs397508189(GATA;GATA)
Reference	Rs397508189(-;-)
Significance	Pathogenic
Disease	Cystic fibrosis not provided
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided
Reversed	0
HGVS	NC_000007.13:g.117188812_117188815dupGATA
CLNSRC	CFTR2
CLNACC	RCV000169333.1, RCV000224712.1,