rs147422190

Orientation

plus

Stabilized

plus

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

Make rs147422190(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117548758

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs147422190
dbSNP (classic)	rs147422190
ClinGen	rs147422190
ebi	rs147422190
HLI	rs147422190
Exac	rs147422190
Gnomad	rs147422190
Varsome	rs147422190
LitVar	rs147422190
Map	rs147422190
PheGenI	rs147422190
Biobank	rs147422190
1000 genomes	rs147422190
hgdp	rs147422190
ensembl	rs147422190
geneview	rs147422190
scholar	rs147422190
google	rs147422190
pharmgkb	rs147422190
gwascentral	rs147422190
openSNP	rs147422190
23andMe	rs147422190
SNPshot	rs147422190
SNPdbe	rs147422190
MSV3d	rs147422190
GWAS Ctlg	rs147422190

GMAF

0.0004591

Max Magnitude

3

ClinVar
Risk	rs147422190(T;T)
Alt	rs147422190(T;T)
Reference	Rs147422190(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis not provided not specified Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided not specified Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117188812G>T
CLNSRC	HGMD
CLNACC	RCV000046274.5, RCV000078976.3, RCV000150335.1, RCV000265854.1,