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rs113857788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs113857788(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117664780
GeneCFTR
is asnp
is mentioned by
dbSNPrs113857788
ebirs113857788
HLIrs113857788
Exacrs113857788
Varsomers113857788
Maprs113857788
PheGenIrs113857788
hapmaprs113857788
1000 genomesrs113857788
hgdprs113857788
ensemblrs113857788
gopubmedrs113857788
geneviewrs113857788
scholarrs113857788
googlers113857788
pharmgkbrs113857788
gwascentralrs113857788
openSNPrs113857788
23andMers113857788
23andMe allrs113857788
SNP Nexus

SNPshotrs113857788
SNPdbers113857788
MSV3drs113857788
GWAS Ctlgrs113857788
GMAF0.003673
Max Magnitude3
OMIM602421
Desc
Variant0133
Relatedalso
ClinVar
Risk rs113857788(C,T;C,T)
Alt rs113857788(C,T;C,T)
Reference rs113857788(G;G)
Significance Pathogenic
Disease Cystic fibrosis Congenital bilateral absence of the vas deferens
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Congenital bilateral absence of the vas deferens
Reversed 0
HGVS NC_000007.13:g.117304834G>C; NC_000007.13:g.117304834G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007659.3, RCV000029537.1,


[PMID 12952] Studies on 3-deoxy-D-arabinoheptulosonate-7-phosphate synthetase(phe)from Escherichia coli K12. 2. Kinetic properties.


[PMID 16596947] Spectrum of CFTR mutations on Reunion Island: impact on neonatal screening.


[PMID 16678503] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.


[PMID 17003641] Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.


[PMID 17329263] Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.


[PMID 18304229] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.