rs121909047

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121909047(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117590355

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909047
dbSNP (classic)	rs121909047
ClinGen	rs121909047
ebi	rs121909047
HLI	rs121909047
Exac	rs121909047
Gnomad	rs121909047
Varsome	rs121909047
LitVar	rs121909047
Map	rs121909047
PheGenI	rs121909047
Biobank	rs121909047
1000 genomes	rs121909047
hgdp	rs121909047
ensembl	rs121909047
geneview	rs121909047
scholar	rs121909047
google	rs121909047
pharmgkb	rs121909047
gwascentral	rs121909047
openSNP	rs121909047
23andMe	rs121909047
SNPshot	rs121909047
SNPdbe	rs121909047
MSV3d	rs121909047
GWAS Ctlg	rs121909047

Max Magnitude

3

Cystic fibrosis; c.1682C>A, p.Ala561Glu

named i5006134 and i5011368 by 23andMe

OMIM	602421
Desc
Variant	0136
Related	also

ClinVar
Risk	rs121909047(A;A)
Alt	rs121909047(A;A)
Reference	Rs121909047(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117230409C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007662.4,