rs121908745

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;ATC)	3	carrier of a cystic fibrosis allele
(A;A)	0	Common (in Ancestry reports); no need to worry
(ATC;ATC)	0	common in clinvar

Make rs121908745(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117559590

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908745
dbSNP (classic)	rs121908745
ClinGen	rs121908745
ebi	rs121908745
HLI	rs121908745
Exac	rs121908745
Gnomad	rs121908745
Varsome	rs121908745
LitVar	rs121908745
Map	rs121908745
PheGenI	rs121908745
Biobank	rs121908745
1000 genomes	rs121908745
hgdp	rs121908745
ensembl	rs121908745
geneview	rs121908745
scholar	rs121908745
google	rs121908745
pharmgkb	rs121908745
gwascentral	rs121908745
openSNP	rs121908745
23andMe	rs121908745
SNPshot	rs121908745
SNPdbe	rs121908745
MSV3d	rs121908745
GWAS Ctlg	rs121908745

Max Magnitude

3

Cystic fibrosis; c.1519_1521delATC, p.Ile507del

ClinVar
Risk	rs121908745(-;-)
Alt	rs121908745(-;-)
Reference	Rs121908745(ATC;ATC)
Significance	Pathogenic
Disease	Cystic fibrosis not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117199644_117199646delATC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007525.9, RCV000224705.1, RCV000261734.1,

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