rs77834169

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs77834169(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117530974

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs77834169
dbSNP (classic)	rs77834169
ClinGen	rs77834169
ebi	rs77834169
HLI	rs77834169
Exac	rs77834169
Gnomad	rs77834169
Varsome	rs77834169
LitVar	rs77834169
Map	rs77834169
PheGenI	rs77834169
Biobank	rs77834169
1000 genomes	rs77834169
hgdp	rs77834169
ensembl	rs77834169
geneview	rs77834169
scholar	rs77834169
google	rs77834169
pharmgkb	rs77834169
gwascentral	rs77834169
openSNP	rs77834169
23andMe	rs77834169
SNPshot	rs77834169
SNPdbe	rs77834169
MSV3d	rs77834169
GWAS Ctlg	rs77834169

Max Magnitude

3

Cystic fibrosis; c.349C>T, Arg117Cys or R117C

named i5010836 by 23andMe, but i5010835 at this same position represents the C>G change (rather than the C>T)

ClinVar
Risk	rs77834169(A;A) rs77834169(G;G) rs77834169(T;T)
Alt	rs77834169(A;A) rs77834169(G;G) rs77834169(T;T)
Reference	Rs77834169(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117171028C>G; NC_000007.13:g.117171028C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046914.2, RCV000056382.3,

[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

[PMID 11491164] Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.