rs78769542

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs78769542(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117611650

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs78769542
dbSNP (classic)	rs78769542
ClinGen	rs78769542
ebi	rs78769542
HLI	rs78769542
Exac	rs78769542
Gnomad	rs78769542
Varsome	rs78769542
LitVar	rs78769542
Map	rs78769542
PheGenI	rs78769542
Biobank	rs78769542
1000 genomes	rs78769542
hgdp	rs78769542
ensembl	rs78769542
geneview	rs78769542
scholar	rs78769542
google	rs78769542
pharmgkb	rs78769542
gwascentral	rs78769542
openSNP	rs78769542
23andMe	rs78769542
SNPshot	rs78769542
SNPdbe	rs78769542
MSV3d	rs78769542
GWAS Ctlg	rs78769542

Max Magnitude

3

Cystic fibrosis; c.3209G>A, p.Arg1070Gln

named i5011827 and i5053837 by 23andMe

ClinVar
Risk	rs78769542(A;A) rs78769542(C;C)
Alt	rs78769542(A;A) rs78769542(C;C)
Reference	Rs78769542(G;G)
Significance	Other
Disease	Cystic fibrosis Congenital bilateral absence of the vas deferens Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Congenital bilateral absence of the vas deferens Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117251704G>A; NC_000007.13:g.117251704G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046825.4, RCV000176040.1, RCV000408640.1, RCV000046826.2,

[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.