rs397508243

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	carrier of a cystic fibrosis allele
(G;G)	0	common in clinvar
(G;T)	3	carrier of a cystic fibrosis allele

Make rs397508243(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117504364

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508243
dbSNP (classic)	rs397508243
ClinGen	rs397508243
ebi	rs397508243
HLI	rs397508243
Exac	rs397508243
Gnomad	rs397508243
Varsome	rs397508243
LitVar	rs397508243
Map	rs397508243
PheGenI	rs397508243
Biobank	rs397508243
1000 genomes	rs397508243
hgdp	rs397508243
ensembl	rs397508243
geneview	rs397508243
scholar	rs397508243
google	rs397508243
pharmgkb	rs397508243
gwascentral	rs397508243
openSNP	rs397508243
23andMe	rs397508243
SNPshot	rs397508243
SNPdbe	rs397508243
MSV3d	rs397508243
GWAS Ctlg	rs397508243

Max Magnitude

3

ClinVar
Risk	rs397508243(A;A) rs397508243(C;C) rs397508243(T;T)
Alt	rs397508243(A;A) rs397508243(C;C) rs397508243(T;T)
Reference	Rs397508243(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117144418G>A; NC_000007.13:g.117144418G>C; NC_000007.13:g.117144418G>T
CLNSRC	CFTR2
CLNACC	RCV000046367.3, RCV000046368.2, RCV000046369.2,