rs797045159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | carrier of a cystic fibrosis allele |
(G;G) | 0 | common in clinvar |
Make rs797045159(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 117642467 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs797045159 |
dbSNP (classic) | rs797045159 |
ClinGen | rs797045159 |
ebi | rs797045159 |
HLI | rs797045159 |
Exac | rs797045159 |
Gnomad | rs797045159 |
Varsome | rs797045159 |
LitVar | rs797045159 |
Map | rs797045159 |
PheGenI | rs797045159 |
Biobank | rs797045159 |
1000 genomes | rs797045159 |
hgdp | rs797045159 |
ensembl | rs797045159 |
geneview | rs797045159 |
scholar | rs797045159 |
rs797045159 | |
pharmgkb | rs797045159 |
gwascentral | rs797045159 |
openSNP | rs797045159 |
23andMe | rs797045159 |
SNPshot | rs797045159 |
SNPdbe | rs797045159 |
MSV3d | rs797045159 |
GWAS Ctlg | rs797045159 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797045159(-;-) |
Alt | rs797045159(-;-) |
Reference | Rs797045159(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117282521delG |
CLNSRC | CFTR2 |
CLNACC | RCV000191001.1, |