rs797045156
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GT) | 3 | carrier of a cystic fibrosis allele |
(GT;GT) | 0 | common in clinvar |
Make rs797045156(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 117592629 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs797045156 |
dbSNP (classic) | rs797045156 |
ClinGen | rs797045156 |
ebi | rs797045156 |
HLI | rs797045156 |
Exac | rs797045156 |
Gnomad | rs797045156 |
Varsome | rs797045156 |
LitVar | rs797045156 |
Map | rs797045156 |
PheGenI | rs797045156 |
Biobank | rs797045156 |
1000 genomes | rs797045156 |
hgdp | rs797045156 |
ensembl | rs797045156 |
geneview | rs797045156 |
scholar | rs797045156 |
rs797045156 | |
pharmgkb | rs797045156 |
gwascentral | rs797045156 |
openSNP | rs797045156 |
23andMe | rs797045156 |
SNPshot | rs797045156 |
SNPdbe | rs797045156 |
MSV3d | rs797045156 |
GWAS Ctlg | rs797045156 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797045156(-;-) |
Alt | rs797045156(-;-) |
Reference | Rs797045156(GT;GT) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117232683_117232684delGT |
CLNSRC | CFTR2 |
CLNACC | RCV000190989.1, |