rs397508192

Orientation

plus

Stabilized

plus

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

Make rs397508192(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117548771

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508192
dbSNP (classic)	rs397508192
ClinGen	rs397508192
ebi	rs397508192
HLI	rs397508192
Exac	rs397508192
Gnomad	rs397508192
Varsome	rs397508192
LitVar	rs397508192
Map	rs397508192
PheGenI	rs397508192
Biobank	rs397508192
1000 genomes	rs397508192
hgdp	rs397508192
ensembl	rs397508192
geneview	rs397508192
scholar	rs397508192
google	rs397508192
pharmgkb	rs397508192
gwascentral	rs397508192
openSNP	rs397508192
23andMe	rs397508192
SNPshot	rs397508192
SNPdbe	rs397508192
MSV3d	rs397508192
GWAS Ctlg	rs397508192

Max Magnitude

3

Cystic fibrosis; c.1340delA, p.Lys447Argfs

named i5011201 by 23andMe

ClinVar
Risk	rs397508192(-;-)
Alt	rs397508192(-;-)
Reference	Rs397508192(A;A)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117188825delA
CLNSRC	CFTR2
CLNACC	RCV000046278.3,