rs556880586
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | carrier of a cystic fibrosis allele |
(G;G) | 0 | common in clinvar |
Make rs556880586(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 117542016 |
Gene | CFTR |
is a | snp |
is | mentioned by |
dbSNP | rs556880586 |
dbSNP (classic) | rs556880586 |
ClinGen | rs556880586 |
ebi | rs556880586 |
HLI | rs556880586 |
Exac | rs556880586 |
Gnomad | rs556880586 |
Varsome | rs556880586 |
LitVar | rs556880586 |
Map | rs556880586 |
PheGenI | rs556880586 |
Biobank | rs556880586 |
1000 genomes | rs556880586 |
hgdp | rs556880586 |
ensembl | rs556880586 |
geneview | rs556880586 |
scholar | rs556880586 |
rs556880586 | |
pharmgkb | rs556880586 |
gwascentral | rs556880586 |
openSNP | rs556880586 |
23andMe | rs556880586 |
SNPshot | rs556880586 |
SNPdbe | rs556880586 |
MSV3d | rs556880586 |
GWAS Ctlg | rs556880586 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs556880586(A;A) |
Alt | rs556880586(A;A) |
Reference | Rs556880586(G;G) |
Significance | Pathogenic |
Disease | Cystic fibrosis |
Variation | info |
Gene | CFTR |
CLNDBN | Cystic fibrosis |
Reversed | 0 |
HGVS | NC_000007.13:g.117182070G>A |
CLNSRC | ClinVar |
CLNACC | RCV000149423.1, |