rs193922510

Orientation

plus

Stabilized

plus

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

Make rs193922510(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117603684

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs193922510
dbSNP (classic)	rs193922510
ClinGen	rs193922510
ebi	rs193922510
HLI	rs193922510
Exac	rs193922510
Gnomad	rs193922510
Varsome	rs193922510
LitVar	rs193922510
Map	rs193922510
PheGenI	rs193922510
Biobank	rs193922510
1000 genomes	rs193922510
hgdp	rs193922510
ensembl	rs193922510
geneview	rs193922510
scholar	rs193922510
google	rs193922510
pharmgkb	rs193922510
gwascentral	rs193922510
openSNP	rs193922510
23andMe	rs193922510
SNPshot	rs193922510
SNPdbe	rs193922510
MSV3d	rs193922510
GWAS Ctlg	rs193922510

Max Magnitude

3

c.2810dupT (p.Val938Glyfs), CFTR, cystic fibrosis

ClinVar
Risk	rs193922510(T;T)
Alt	rs193922510(T;T)
Reference	Rs193922510(-;-)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117243738dupT
CLNSRC	CFTR2
CLNACC	RCV000029504.2,