rs121909044

Orientation

plus

Stabilized

plus

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

Make rs121909044(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587812

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909044
dbSNP (classic)	rs121909044
ClinGen	rs121909044
ebi	rs121909044
HLI	rs121909044
Exac	rs121909044
Gnomad	rs121909044
Varsome	rs121909044
LitVar	rs121909044
Map	rs121909044
PheGenI	rs121909044
Biobank	rs121909044
1000 genomes	rs121909044
hgdp	rs121909044
ensembl	rs121909044
geneview	rs121909044
scholar	rs121909044
google	rs121909044
pharmgkb	rs121909044
gwascentral	rs121909044
openSNP	rs121909044
23andMe	rs121909044
SNPshot	rs121909044
SNPdbe	rs121909044
MSV3d	rs121909044
GWAS Ctlg	rs121909044

Max Magnitude

3

OMIM	602421
Desc
Variant	0121
Related	also

ClinVar
Risk	rs121909044(A;A)
Alt	rs121909044(A;A)
Reference	Rs121909044(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117227866G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007646.4,