rs121908765

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121908765(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117627665

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908765
dbSNP (classic)	rs121908765
ClinGen	rs121908765
ebi	rs121908765
HLI	rs121908765
Exac	rs121908765
Gnomad	rs121908765
Varsome	rs121908765
LitVar	rs121908765
Map	rs121908765
PheGenI	rs121908765
Biobank	rs121908765
1000 genomes	rs121908765
hgdp	rs121908765
ensembl	rs121908765
geneview	rs121908765
scholar	rs121908765
google	rs121908765
pharmgkb	rs121908765
gwascentral	rs121908765
openSNP	rs121908765
23andMe	rs121908765
SNPshot	rs121908765
SNPdbe	rs121908765
MSV3d	rs121908765
GWAS Ctlg	rs121908765

Merged from

Rs121909039

Max Magnitude

3

Cystic fibrosis; c.3612G>A, p.Trp1204Ter

named i5011958 and i5006119 by 23andMe

OMIM	602421
Desc
Variant	0107
Related	also

ClinVar
Risk	rs121908765(A;A)
Alt	rs121908765(A;A)
Reference	Rs121908765(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.117267719G>A
CLNSRC	HGMD
CLNACC	RCV000056384.4, RCV000078999.3, RCV000326867.1,