rs121908753

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121908753(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117540285

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908753
dbSNP (classic)	rs121908753
ClinGen	rs121908753
ebi	rs121908753
HLI	rs121908753
Exac	rs121908753
Gnomad	rs121908753
Varsome	rs121908753
LitVar	rs121908753
Map	rs121908753
PheGenI	rs121908753
Biobank	rs121908753
1000 genomes	rs121908753
hgdp	rs121908753
ensembl	rs121908753
geneview	rs121908753
scholar	rs121908753
google	rs121908753
pharmgkb	rs121908753
gwascentral	rs121908753
openSNP	rs121908753
23andMe	rs121908753
SNPshot	rs121908753
SNPdbe	rs121908753
MSV3d	rs121908753
GWAS Ctlg	rs121908753

Merged from

Rs121909032

Max Magnitude

3

Cystic fibrosis; c.1055G>A, Arg352Gln or R352Q

named i5006107 and i5011106 by 23andMe

OMIM	602421
Desc
Variant	0092
Related	also

ClinVar
Risk	rs121908753(A;A)
Alt	rs121908753(A;A)
Reference	Rs121908753(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117180339G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007619.5,