rs121909026

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121909026(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117652905

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909026
dbSNP (classic)	rs121909026
ClinGen	rs121909026
ebi	rs121909026
HLI	rs121909026
Exac	rs121909026
Gnomad	rs121909026
Varsome	rs121909026
LitVar	rs121909026
Map	rs121909026
PheGenI	rs121909026
Biobank	rs121909026
1000 genomes	rs121909026
hgdp	rs121909026
ensembl	rs121909026
geneview	rs121909026
scholar	rs121909026
google	rs121909026
pharmgkb	rs121909026
gwascentral	rs121909026
openSNP	rs121909026
23andMe	rs121909026
SNPshot	rs121909026
SNPdbe	rs121909026
MSV3d	rs121909026
GWAS Ctlg	rs121909026

Max Magnitude

3

Cystic fibrosis; c.3937C>T, p.Gln1313Ter

named i5012092 and i5006095 by 23andMe

OMIM	602421
Desc
Variant	0076
Related	also

ClinVar
Risk	rs121909026(A;A) rs121909026(T;T)
Alt	rs121909026(A;A) rs121909026(T;T)
Reference	Rs121909026(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117292959C>A; NC_000007.13:g.117292959C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000047038.2, RCV000007600.6,