rs121908750

Orientation

plus

Stabilized

plus

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

Make rs121908750(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117509140

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908750
dbSNP (classic)	rs121908750
ClinGen	rs121908750
ebi	rs121908750
HLI	rs121908750
Exac	rs121908750
Gnomad	rs121908750
Varsome	rs121908750
LitVar	rs121908750
Map	rs121908750
PheGenI	rs121908750
Biobank	rs121908750
1000 genomes	rs121908750
hgdp	rs121908750
ensembl	rs121908750
geneview	rs121908750
scholar	rs121908750
google	rs121908750
pharmgkb	rs121908750
gwascentral	rs121908750
openSNP	rs121908750
23andMe	rs121908750
SNPshot	rs121908750
SNPdbe	rs121908750
MSV3d	rs121908750
GWAS Ctlg	rs121908750

Max Magnitude

3

OMIM	602421
Desc
Variant	0079
Related	also

ClinVar
Risk	rs121908750(A;A)
Alt	rs121908750(A;A)
Reference	Rs121908750(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117149194G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007603.3,