rs121908776

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;TA)	3	carrier of a cystic fibrosis allele
(AT;AT)	0	common in clinvar
(TA;TA)	0	common in clinvar

Make rs121908776(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117559616

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908776
dbSNP (classic)	rs121908776
ClinGen	rs121908776
ebi	rs121908776
HLI	rs121908776
Exac	rs121908776
Gnomad	rs121908776
Varsome	rs121908776
LitVar	rs121908776
Map	rs121908776
PheGenI	rs121908776
Biobank	rs121908776
1000 genomes	rs121908776
hgdp	rs121908776
ensembl	rs121908776
geneview	rs121908776
scholar	rs121908776
google	rs121908776
pharmgkb	rs121908776
gwascentral	rs121908776
openSNP	rs121908776
23andMe	rs121908776
SNPshot	rs121908776
SNPdbe	rs121908776
MSV3d	rs121908776
GWAS Ctlg	rs121908776

Max Magnitude

3

Cystic fibrosis; c.1545_1546delTA, p.Tyr515Terfs

this may be named i5011275 by 23andMe, but it is unclear what deletion is being assayed

OMIM	602421
Desc
Variant	0035
Related	also

ClinVar
Risk	rs121908776(-;-)
Alt	rs121908776(-;-)
Reference	Rs121908776(AT;AT)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117199670_117199671delTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007560.5,

[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.