rs78802634

Cystic Fibrosis related

plus

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

Make rs78802634(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117611707

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs78802634
dbSNP (classic)	rs78802634
ClinGen	rs78802634
ebi	rs78802634
HLI	rs78802634
Exac	rs78802634
Gnomad	rs78802634
Varsome	rs78802634
LitVar	rs78802634
Map	rs78802634
PheGenI	rs78802634
Biobank	rs78802634
1000 genomes	rs78802634
hgdp	rs78802634
ensembl	rs78802634
geneview	rs78802634
scholar	rs78802634
google	rs78802634
pharmgkb	rs78802634
gwascentral	rs78802634
openSNP	rs78802634
23andMe	rs78802634
SNPshot	rs78802634
SNPdbe	rs78802634
MSV3d	rs78802634
GWAS Ctlg	rs78802634

Max Magnitude

3

Cystic fibrosis; c.3266G>A, p.Trp1089Ter

named i5011848 by 23andMe

FTDNA & MyHeritage name: VG07S29406

OMIM	602421
Desc
Variant	0088
Related	also

ClinVar
Risk	rs78802634(A;A)
Alt	rs78802634(A;A)
Reference	Rs78802634(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117251761G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007615.7,

[PMID 153719] Electromagnetic measurements of metacarpal and digital blood flow in the pony.

[PMID 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

[PMID 10794365] Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.

[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

[PMID 11336401] Prevalence of cystic fibrosis mutations in Israeli Jews.

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