rs121908766

Orientation

plus

Stabilized

plus

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

Make rs121908766(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117627765

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908766
dbSNP (classic)	rs121908766
ClinGen	rs121908766
ebi	rs121908766
HLI	rs121908766
Exac	rs121908766
Gnomad	rs121908766
Varsome	rs121908766
LitVar	rs121908766
Map	rs121908766
PheGenI	rs121908766
Biobank	rs121908766
1000 genomes	rs121908766
hgdp	rs121908766
ensembl	rs121908766
geneview	rs121908766
scholar	rs121908766
google	rs121908766
pharmgkb	rs121908766
gwascentral	rs121908766
openSNP	rs121908766
23andMe	rs121908766
SNPshot	rs121908766
SNPdbe	rs121908766
MSV3d	rs121908766
GWAS Ctlg	rs121908766

Merged from

Rs121909024

Max Magnitude

3

aka c.3712C>T (p.Gln1238Ter)

see also OMIM 602421.0072

23andMe name: i5006092

OMIM	602421
Desc
Variant	0072
Related	also

ClinVar
Risk	rs121908766(A;A) rs121908766(T;T)
Alt	rs121908766(A;A) rs121908766(T;T)
Reference	Rs121908766(C;C)
Significance	Other
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117267819C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007596.4,