Have questions? Visit https://www.reddit.com/r/SNPedia

rs78802634

From SNPedia

Cystic Fibrosis related
Orientationplus
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)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611707
GeneCFTR
is asnp
is mentioned by
dbSNPrs78802634
ebirs78802634
HLIrs78802634
Exacrs78802634
Varsomers78802634
Maprs78802634
PheGenIrs78802634
hapmaprs78802634
1000 genomesrs78802634
hgdprs78802634
ensemblrs78802634
gopubmedrs78802634
geneviewrs78802634
scholarrs78802634
googlers78802634
pharmgkbrs78802634
gwascentralrs78802634
openSNPrs78802634
23andMers78802634
23andMe allrs78802634
SNP Nexus

SNPshotrs78802634
SNPdbers78802634
MSV3drs78802634
GWAS Ctlgrs78802634
Max Magnitude3

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

named i5011848 by 23andMe

OMIM602421
Desc
Variant0088
Relatedalso
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 CFTR2 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.