rs139468767

Orientation

plus

Stabilized

plus

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

Make rs139468767(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117592020

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs139468767
dbSNP (classic)	rs139468767
ClinGen	rs139468767
ebi	rs139468767
HLI	rs139468767
Exac	rs139468767
Gnomad	rs139468767
Varsome	rs139468767
LitVar	rs139468767
Map	rs139468767
PheGenI	rs139468767
Biobank	rs139468767
1000 genomes	rs139468767
hgdp	rs139468767
ensembl	rs139468767
geneview	rs139468767
scholar	rs139468767
google	rs139468767
pharmgkb	rs139468767
gwascentral	rs139468767
openSNP	rs139468767
23andMe	rs139468767
SNPshot	rs139468767
SNPdbe	rs139468767
MSV3d	rs139468767
GWAS Ctlg	rs139468767

Max Magnitude

3

ClinVar
Risk	rs139468767(C;C)
Alt	rs139468767(C;C)
Reference	Rs139468767(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117232074T>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000046494.3, RCV000078982.3, RCV000375034.1,