rs587777503
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs587777503(-;-) |
Make rs587777503(-;AG) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 55232446 |
Gene | CCNO |
is a | snp |
is | mentioned by |
dbSNP | rs587777503 |
dbSNP (classic) | rs587777503 |
ClinGen | rs587777503 |
ebi | rs587777503 |
HLI | rs587777503 |
Exac | rs587777503 |
Gnomad | rs587777503 |
Varsome | rs587777503 |
LitVar | rs587777503 |
Map | rs587777503 |
PheGenI | rs587777503 |
Biobank | rs587777503 |
1000 genomes | rs587777503 |
hgdp | rs587777503 |
ensembl | rs587777503 |
geneview | rs587777503 |
scholar | rs587777503 |
rs587777503 | |
pharmgkb | rs587777503 |
gwascentral | rs587777503 |
openSNP | rs587777503 |
23andMe | rs587777503 |
SNPshot | rs587777503 |
SNPdbe | rs587777503 |
MSV3d | rs587777503 |
GWAS Ctlg | rs587777503 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777503(-;-) |
Alt | rs587777503(-;-) |
Reference | Rs587777503(AG;AG) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | CCNO |
CLNDBN | Ciliary dyskinesia, primary, 29 Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.54528274_54528275delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128555.3, RCV000190944.1, |