rs397508492

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AGTGAT)	3	Cystic Fibrosis carrier
(AGTGAT;AGTGAT)	0	common in clinvar

Make rs397508492(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

117610593

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508492
dbSNP (classic)	rs397508492
ClinGen	rs397508492
ebi	rs397508492
HLI	rs397508492
Exac	rs397508492
Gnomad	rs397508492
Varsome	rs397508492
LitVar	rs397508492
Map	rs397508492
PheGenI	rs397508492
Biobank	rs397508492
1000 genomes	rs397508492
hgdp	rs397508492
ensembl	rs397508492
geneview	rs397508492
scholar	rs397508492
google	rs397508492
pharmgkb	rs397508492
gwascentral	rs397508492
openSNP	rs397508492
23andMe	rs397508492
SNPshot	rs397508492
SNPdbe	rs397508492
MSV3d	rs397508492
GWAS Ctlg	rs397508492

Max Magnitude

3

Equivalent to rs121908767

FTDNA & MyHeritage name: VG07S50448

ClinVar
Risk	rs397508492(-;-)
Alt	rs397508492(-;-)
Reference	Rs397508492(AGTGAT;AGTGAT)
Significance	Pathogenic
Disease	Cystic fibrosis not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117250651_117250656delATAGTG
CLNSRC	HGMD
CLNACC	RCV000046775.6, RCV000078992.3, RCV000312394.1,