rs145457535
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs145457535(A;C) |
Make rs145457535(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44902549 |
Gene | CCDC103 |
is a | snp |
is | mentioned by |
dbSNP | rs145457535 |
dbSNP (classic) | rs145457535 |
ClinGen | rs145457535 |
ebi | rs145457535 |
HLI | rs145457535 |
Exac | rs145457535 |
Gnomad | rs145457535 |
Varsome | rs145457535 |
LitVar | rs145457535 |
Map | rs145457535 |
PheGenI | rs145457535 |
Biobank | rs145457535 |
1000 genomes | rs145457535 |
hgdp | rs145457535 |
ensembl | rs145457535 |
geneview | rs145457535 |
scholar | rs145457535 |
rs145457535 | |
pharmgkb | rs145457535 |
gwascentral | rs145457535 |
openSNP | rs145457535 |
23andMe | rs145457535 |
SNPshot | rs145457535 |
SNPdbe | rs145457535 |
MSV3d | rs145457535 |
GWAS Ctlg | rs145457535 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145457535(C;C) |
Alt | rs145457535(C;C) |
Reference | Rs145457535(A;A) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC103 |
CLNDBN | Ciliary dyskinesia, primary, 17 Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000017.10:g.42979917A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024376.4, RCV000190916.1, RCV000226016.2, |