rs863224531
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224531(-;-) |
Make rs863224531(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 180644141 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs863224531 |
dbSNP (classic) | rs863224531 |
ClinGen | rs863224531 |
ebi | rs863224531 |
HLI | rs863224531 |
Exac | rs863224531 |
Gnomad | rs863224531 |
Varsome | rs863224531 |
LitVar | rs863224531 |
Map | rs863224531 |
PheGenI | rs863224531 |
Biobank | rs863224531 |
1000 genomes | rs863224531 |
hgdp | rs863224531 |
ensembl | rs863224531 |
geneview | rs863224531 |
scholar | rs863224531 |
rs863224531 | |
pharmgkb | rs863224531 |
gwascentral | rs863224531 |
openSNP | rs863224531 |
23andMe | rs863224531 |
SNPshot | rs863224531 |
SNPdbe | rs863224531 |
MSV3d | rs863224531 |
GWAS Ctlg | rs863224531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224531(-;-) |
Alt | rs863224531(-;-) |
Reference | Rs863224531(T;T) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 1 |
HGVS | NC_000003.11:g.180361929delA |
CLNSRC | |
CLNACC | RCV000197291.1, |