rs74503330

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs74503330(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117642472

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs74503330
dbSNP (classic)	rs74503330
ClinGen	rs74503330
ebi	rs74503330
HLI	rs74503330
Exac	rs74503330
Gnomad	rs74503330
Varsome	rs74503330
LitVar	rs74503330
Map	rs74503330
PheGenI	rs74503330
Biobank	rs74503330
1000 genomes	rs74503330
hgdp	rs74503330
ensembl	rs74503330
geneview	rs74503330
scholar	rs74503330
google	rs74503330
pharmgkb	rs74503330
gwascentral	rs74503330
openSNP	rs74503330
23andMe	rs74503330
SNPshot	rs74503330
SNPdbe	rs74503330
MSV3d	rs74503330
GWAS Ctlg	rs74503330

Max Magnitude

3

Cystic fibrosis; c.3752G>A, p.Ser1251Asn

named i5006123, i5012007 and i5053845 by 23andMe

FTDNA & MyHeritage name: VG07S29444

OMIM	602421
Desc
Variant	0112
Related	also

ClinVar
Risk	rs74503330(A;A)
Alt	rs74503330(A;A)
Reference	Rs74503330(G;G)
Significance	Drug-response
Disease	Cystic fibrosis ivacaftor response - Efficacy
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis ivacaftor response - Efficacy
Reversed	0
HGVS	NC_000007.13:g.117282526G>A
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000007638.5, RCV000211301.1,