rs121909016

Orientation

plus

Stabilized

plus

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

Make rs121909016(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117540163

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909016
dbSNP (classic)	rs121909016
ClinGen	rs121909016
ebi	rs121909016
HLI	rs121909016
Exac	rs121909016
Gnomad	rs121909016
Varsome	rs121909016
LitVar	rs121909016
Map	rs121909016
PheGenI	rs121909016
Biobank	rs121909016
1000 genomes	rs121909016
hgdp	rs121909016
ensembl	rs121909016
geneview	rs121909016
scholar	rs121909016
google	rs121909016
pharmgkb	rs121909016
gwascentral	rs121909016
openSNP	rs121909016
23andMe	rs121909016
SNPshot	rs121909016
SNPdbe	rs121909016
MSV3d	rs121909016
GWAS Ctlg	rs121909016

Max Magnitude

3

OMIM	602421
Desc
Variant	0049
Related	also

ClinVar
Risk	rs121909016(G;G)
Alt	rs121909016(G;G)
Reference	Rs121909016(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117180217C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007573.3,