rs75541969

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs75541969(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117614699

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs75541969
dbSNP (classic)	rs75541969
ClinGen	rs75541969
ebi	rs75541969
HLI	rs75541969
Exac	rs75541969
Gnomad	rs75541969
Varsome	rs75541969
LitVar	rs75541969
Map	rs75541969
PheGenI	rs75541969
Biobank	rs75541969
1000 genomes	rs75541969
hgdp	rs75541969
ensembl	rs75541969
geneview	rs75541969
scholar	rs75541969
google	rs75541969
pharmgkb	rs75541969
gwascentral	rs75541969
openSNP	rs75541969
23andMe	rs75541969
SNPshot	rs75541969
SNPdbe	rs75541969
MSV3d	rs75541969
GWAS Ctlg	rs75541969

Max Magnitude

3

Cystic fibrosis; c.3454G>C, p.Asp1152His

named i5011913 and i5053840 by 23andMe

FTDNA & MyHeritage name: VG07S29419

ClinVar
Risk	rs75541969(C;C)
Alt	rs75541969(C;C)
Reference	Rs75541969(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral absence of the vas deferens Hereditary pancreatitis not provided
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral absence of the vas deferens Hereditary pancreatitis not provided
Reversed	0
HGVS	NC_000007.13:g.117254753G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046895.7, RCV000176162.2, RCV000176163.2, RCV000279232.1, RCV000325638.2,