rs142394380

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs142394380(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117611622

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs142394380
dbSNP (classic)	rs142394380
ClinGen	rs142394380
ebi	rs142394380
HLI	rs142394380
Exac	rs142394380
Gnomad	rs142394380
Varsome	rs142394380
LitVar	rs142394380
Map	rs142394380
PheGenI	rs142394380
Biobank	rs142394380
1000 genomes	rs142394380
hgdp	rs142394380
ensembl	rs142394380
geneview	rs142394380
scholar	rs142394380
google	rs142394380
pharmgkb	rs142394380
gwascentral	rs142394380
openSNP	rs142394380
23andMe	rs142394380
SNPshot	rs142394380
SNPdbe	rs142394380
MSV3d	rs142394380
GWAS Ctlg	rs142394380

GMAF

0.0004591

Max Magnitude

3

Cystic fibrosis; c.3181G>C, p.Gly1061Arg

named i5011808 by 23andMe

ClinVar
Risk	rs142394380(C;C)
Alt	rs142394380(C;C)
Reference	Rs142394380(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis not specified
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not specified
Reversed	0
HGVS	NC_000007.13:g.117251676G>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000046807.3, RCV000078994.4,