rs193922503

Orientation

plus

Stabilized

plus

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

Make rs193922503(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587731

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs193922503
dbSNP (classic)	rs193922503
ClinGen	rs193922503
ebi	rs193922503
HLI	rs193922503
Exac	rs193922503
Gnomad	rs193922503
Varsome	rs193922503
LitVar	rs193922503
Map	rs193922503
PheGenI	rs193922503
Biobank	rs193922503
1000 genomes	rs193922503
hgdp	rs193922503
ensembl	rs193922503
geneview	rs193922503
scholar	rs193922503
google	rs193922503
pharmgkb	rs193922503
gwascentral	rs193922503
openSNP	rs193922503
23andMe	rs193922503
SNPshot	rs193922503
SNPdbe	rs193922503
MSV3d	rs193922503
GWAS Ctlg	rs193922503

Max Magnitude

3

Cystic fibrosis; c.1585-8G>A

named i5011304 by 23andMe

ClinVar
Risk	rs193922503(A;A) rs193922503(T;T)
Alt	rs193922503(A;A) rs193922503(T;T)
Reference	Rs193922503(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117227785G>A
CLNSRC	CFTR2
CLNACC	RCV000029481.4,