rs193922516

Orientation

plus

Stabilized

plus

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

Make rs193922516(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117610568

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs193922516
dbSNP (classic)	rs193922516
ClinGen	rs193922516
ebi	rs193922516
HLI	rs193922516
Exac	rs193922516
Gnomad	rs193922516
Varsome	rs193922516
LitVar	rs193922516
Map	rs193922516
PheGenI	rs193922516
Biobank	rs193922516
1000 genomes	rs193922516
hgdp	rs193922516
ensembl	rs193922516
geneview	rs193922516
scholar	rs193922516
google	rs193922516
pharmgkb	rs193922516
gwascentral	rs193922516
openSNP	rs193922516
23andMe	rs193922516
SNPshot	rs193922516
SNPdbe	rs193922516
MSV3d	rs193922516
GWAS Ctlg	rs193922516

Max Magnitude

3

ClinVar
Risk	rs193922516(A;A) rs193922516(G;G) rs193922516(T;T)
Alt	rs193922516(A;A) rs193922516(G;G) rs193922516(T;T)
Reference	Rs193922516(C;C)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117250622C>A; NC_000007.13:g.117250622C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000029514.1, RCV000046763.2,