rs193922522

Orientation

plus

Stabilized

plus

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

Make rs193922522(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117652861

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs193922522
dbSNP (classic)	rs193922522
ClinGen	rs193922522
ebi	rs193922522
HLI	rs193922522
Exac	rs193922522
Gnomad	rs193922522
Varsome	rs193922522
LitVar	rs193922522
Map	rs193922522
PheGenI	rs193922522
Biobank	rs193922522
1000 genomes	rs193922522
hgdp	rs193922522
ensembl	rs193922522
geneview	rs193922522
scholar	rs193922522
google	rs193922522
pharmgkb	rs193922522
gwascentral	rs193922522
openSNP	rs193922522
23andMe	rs193922522
SNPshot	rs193922522
SNPdbe	rs193922522
MSV3d	rs193922522
GWAS Ctlg	rs193922522

Max Magnitude

3

ClinVar
Risk	rs193922522(C;C) rs193922522(T;T)
Alt	rs193922522(C;C) rs193922522(T;T)
Reference	Rs193922522(G;G)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117292915G>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029533.2,