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

rs113993959

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier for G542X cystic fibrosis mutation
(T;T) 4 Cystic Fibrosis; homozygote for G542X mutation
ReferenceGRCh38 38.1/141
Chromosome7
Position117587778
GeneCFTR
is asnp
is mentioned by
dbSNPrs113993959
ebirs113993959
HLIrs113993959
Exacrs113993959
Varsomers113993959
Maprs113993959
PheGenIrs113993959
hapmaprs113993959
1000 genomesrs113993959
hgdprs113993959
ensemblrs113993959
gopubmedrs113993959
geneviewrs113993959
scholarrs113993959
googlers113993959
pharmgkbrs113993959
gwascentralrs113993959
openSNPrs113993959
23andMers113993959
23andMe allrs113993959
SNP Nexus

SNPshotrs113993959
SNPdbers113993959
MSV3drs113993959
GWAS Ctlgrs113993959
Max Magnitude4
rs113993959, also known as G542X, is a SNP in the CFTR cystic fibrosis gene. This mutation is fairly rare, but in Ashkenazi Jews it accounts for ~13% of all cases of cystic fibrosis. See also OMIM 602421.0009.

In 23andMe, rs113993959 may be called one of several names: i4000300, i5006109 or i5011314.

OMIM602421
Desc
Variant0009
Relatedalso
ClinVar
Risk rs113993959(T;T)
Alt rs113993959(T;T)
Reference rs113993959(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided Hereditary pancreatitis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.117227832G>T
CLNSRC CFTR2 HGMD OMIM Allelic Variant
CLNACC RCV000007535.10, RCV000058931.5, RCV000119041.2,



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