rs193922528

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	cystic fibrosis carrier (most likely)
(T;T)	0	common in clinvar

Make rs193922528(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117666945

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs193922528
dbSNP (classic)	rs193922528
ClinGen	rs193922528
ebi	rs193922528
HLI	rs193922528
Exac	rs193922528
Gnomad	rs193922528
Varsome	rs193922528
LitVar	rs193922528
Map	rs193922528
PheGenI	rs193922528
Biobank	rs193922528
1000 genomes	rs193922528
hgdp	rs193922528
ensembl	rs193922528
geneview	rs193922528
scholar	rs193922528
google	rs193922528
pharmgkb	rs193922528
gwascentral	rs193922528
openSNP	rs193922528
23andMe	rs193922528
SNPshot	rs193922528
SNPdbe	rs193922528
MSV3d	rs193922528
GWAS Ctlg	rs193922528

Max Magnitude

3

ClinVar
Risk	rs193922528(C;C)
Alt	rs193922528(C;C)
Reference	Rs193922528(T;T)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117306999T>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029541.1,