rs113857788
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 3 | cystic fibrosis carrier |
(G;G) | 0 | common in clinvar |
Make rs113857788(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117664780 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs113857788 |
dbSNP (classic) | rs113857788 |
ClinGen | rs113857788 |
ebi | rs113857788 |
HLI | rs113857788 |
Exac | rs113857788 |
Gnomad | rs113857788 |
Varsome | rs113857788 |
LitVar | rs113857788 |
Map | rs113857788 |
PheGenI | rs113857788 |
Biobank | rs113857788 |
1000 genomes | rs113857788 |
hgdp | rs113857788 |
ensembl | rs113857788 |
geneview | rs113857788 |
scholar | rs113857788 |
rs113857788 | |
pharmgkb | rs113857788 |
gwascentral | rs113857788 |
openSNP | rs113857788 |
23andMe | rs113857788 |
SNPshot | rs113857788 |
SNPdbe | rs113857788 |
MSV3d | rs113857788 |
GWAS Ctlg | rs113857788 |
GMAF | 0.003673 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs113857788(C;C) rs113857788(T;T) |
Alt | rs113857788(C;C) rs113857788(T;T) |
Reference | Rs113857788(G;G) |
Significance | Other |
Disease | Cystic fibrosis not specified Congenital bilateral absence of the vas deferens |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis not specified 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 | RCV000007659.7, RCV000401835.1, 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.