rs121908797

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121908797(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117606753

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908797
dbSNP (classic)	rs121908797
ClinGen	rs121908797
ebi	rs121908797
HLI	rs121908797
Exac	rs121908797
Gnomad	rs121908797
Varsome	rs121908797
LitVar	rs121908797
Map	rs121908797
PheGenI	rs121908797
Biobank	rs121908797
1000 genomes	rs121908797
hgdp	rs121908797
ensembl	rs121908797
geneview	rs121908797
scholar	rs121908797
google	rs121908797
pharmgkb	rs121908797
gwascentral	rs121908797
openSNP	rs121908797
23andMe	rs121908797
SNPshot	rs121908797
SNPdbe	rs121908797
MSV3d	rs121908797
GWAS Ctlg	rs121908797

Max Magnitude

3

Cystic fibrosis; c.2988G>A

named i5011729 by 23andMe

ClinVar
Risk	rs121908797(A;A)
Alt	rs121908797(A;A)
Reference	Rs121908797(G;G)
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.117246807G>A
CLNSRC	HGMD
CLNACC	RCV000029512.6, RCV000078990.3, RCV000315239.1,