rs121909006

Orientation

plus

Stabilized

plus

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

Make rs121909006(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117590360

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909006
dbSNP (classic)	rs121909006
ClinGen	rs121909006
ebi	rs121909006
HLI	rs121909006
Exac	rs121909006
Gnomad	rs121909006
Varsome	rs121909006
LitVar	rs121909006
Map	rs121909006
PheGenI	rs121909006
Biobank	rs121909006
1000 genomes	rs121909006
hgdp	rs121909006
ensembl	rs121909006
geneview	rs121909006
scholar	rs121909006
google	rs121909006
pharmgkb	rs121909006
gwascentral	rs121909006
openSNP	rs121909006
23andMe	rs121909006
SNPshot	rs121909006
SNPdbe	rs121909006
MSV3d	rs121909006
GWAS Ctlg	rs121909006

Max Magnitude

3

OMIM	602421
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121909006(A;A) rs121909006(G;G)
Alt	rs121909006(A;A) rs121909006(G;G)
Reference	Rs121909006(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117230414T>A; NC_000007.13:g.117230414T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007534.4, RCV000046423.2,