rs121908761

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121908761(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117611717

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908761
dbSNP (classic)	rs121908761
ClinGen	rs121908761
ebi	rs121908761
HLI	rs121908761
Exac	rs121908761
Gnomad	rs121908761
Varsome	rs121908761
LitVar	rs121908761
Map	rs121908761
PheGenI	rs121908761
Biobank	rs121908761
1000 genomes	rs121908761
hgdp	rs121908761
ensembl	rs121908761
geneview	rs121908761
scholar	rs121908761
google	rs121908761
pharmgkb	rs121908761
gwascentral	rs121908761
openSNP	rs121908761
23andMe	rs121908761
SNPshot	rs121908761
SNPdbe	rs121908761
MSV3d	rs121908761
GWAS Ctlg	rs121908761

Merged from

Rs121908762, Rs121909038

Max Magnitude

3

Cystic fibrosis; c.3276C>A, p.Tyr1092Ter as well as c.3276C>G, p.Tyr1092Ter

named i5011851 and i5011852 by 23andMe

OMIM	602421
Desc
Variant	0106
Related	also

ClinVar
Risk	rs121908761(A;A) rs121908761(G;G)
Alt	rs121908761(A;A) rs121908761(G;G)
Reference	Rs121908761(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117251771C>A; NC_000007.13:g.117251771C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000056379.5, RCV000056380.5,

[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.