rs587777498
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777498(-;GGGCA) |
Make rs587777498(GGGCA;GGGCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 55233276 |
Gene | CCNO |
is a | snp |
is | mentioned by |
dbSNP | rs587777498 |
dbSNP (classic) | rs587777498 |
ClinGen | rs587777498 |
ebi | rs587777498 |
HLI | rs587777498 |
Exac | rs587777498 |
Gnomad | rs587777498 |
Varsome | rs587777498 |
LitVar | rs587777498 |
Map | rs587777498 |
PheGenI | rs587777498 |
Biobank | rs587777498 |
1000 genomes | rs587777498 |
hgdp | rs587777498 |
ensembl | rs587777498 |
geneview | rs587777498 |
scholar | rs587777498 |
rs587777498 | |
pharmgkb | rs587777498 |
gwascentral | rs587777498 |
openSNP | rs587777498 |
23andMe | rs587777498 |
SNPshot | rs587777498 |
SNPdbe | rs587777498 |
MSV3d | rs587777498 |
GWAS Ctlg | rs587777498 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777498(GGGCA;GGGCA) |
Alt | rs587777498(GGGCA;GGGCA) |
Reference | Rs587777498(-;-) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | CCNO |
CLNDBN | Ciliary dyskinesia, primary, 29 Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.54529100_54529104dupGGGCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128540.3, RCV000190941.1, RCV000472435.1, |