rs121908772

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;A)	3	cystic fibrosis carrier
(A;A)	0	common in clinvar

Make rs121908772(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117536607

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908772
dbSNP (classic)	rs121908772
ClinGen	rs121908772
ebi	rs121908772
HLI	rs121908772
Exac	rs121908772
Gnomad	rs121908772
Varsome	rs121908772
LitVar	rs121908772
Map	rs121908772
PheGenI	rs121908772
Biobank	rs121908772
1000 genomes	rs121908772
hgdp	rs121908772
ensembl	rs121908772
geneview	rs121908772
scholar	rs121908772
google	rs121908772
pharmgkb	rs121908772
gwascentral	rs121908772
openSNP	rs121908772
23andMe	rs121908772
SNPshot	rs121908772
SNPdbe	rs121908772
MSV3d	rs121908772
GWAS Ctlg	rs121908772

Max Magnitude

3

ClinVar
Risk	rs121908772(-;-)
Alt	rs121908772(-;-)
Reference	Rs121908772(A;A)
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.117176661delA
CLNSRC	HGMD
CLNACC	RCV000047258.4, RCV000079013.3, RCV000264995.1,

[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.