rs151073129
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 3 | cystic fibrosis carrier (most likely) |
Make rs151073129(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 117536657 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs151073129 |
dbSNP (classic) | rs151073129 |
ClinGen | rs151073129 |
ebi | rs151073129 |
HLI | rs151073129 |
Exac | rs151073129 |
Gnomad | rs151073129 |
Varsome | rs151073129 |
LitVar | rs151073129 |
Map | rs151073129 |
PheGenI | rs151073129 |
Biobank | rs151073129 |
1000 genomes | rs151073129 |
hgdp | rs151073129 |
ensembl | rs151073129 |
geneview | rs151073129 |
scholar | rs151073129 |
rs151073129 | |
pharmgkb | rs151073129 |
gwascentral | rs151073129 |
openSNP | rs151073129 |
23andMe | rs151073129 |
SNPshot | rs151073129 |
SNPdbe | rs151073129 |
MSV3d | rs151073129 |
GWAS Ctlg | rs151073129 |
GMAF | 0.0004591 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs151073129(T;T) |
Alt | rs151073129(T;T) |
Reference | Rs151073129(A;A) |
Significance | Probable-non-pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117176711A>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029547.2, |
[PMID 16362824] Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.