rs587778821
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTA;GTA) | 0 | common in clinvar |
Make rs587778821(GTA;T) |
Make rs587778821(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 180616873 |
Gene | CCDC39, TTC14 |
is a | snp |
is | mentioned by |
dbSNP | rs587778821 |
dbSNP (classic) | rs587778821 |
ClinGen | rs587778821 |
ebi | rs587778821 |
HLI | rs587778821 |
Exac | rs587778821 |
Gnomad | rs587778821 |
Varsome | rs587778821 |
LitVar | rs587778821 |
Map | rs587778821 |
PheGenI | rs587778821 |
Biobank | rs587778821 |
1000 genomes | rs587778821 |
hgdp | rs587778821 |
ensembl | rs587778821 |
geneview | rs587778821 |
scholar | rs587778821 |
rs587778821 | |
pharmgkb | rs587778821 |
gwascentral | rs587778821 |
openSNP | rs587778821 |
23andMe | rs587778821 |
SNPshot | rs587778821 |
SNPdbe | rs587778821 |
MSV3d | rs587778821 |
GWAS Ctlg | rs587778821 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778821(T;T) |
Alt | rs587778821(T;T) |
Reference | Rs587778821(GTA;GTA) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | CCDC39 TTC14 |
CLNDBN | Ciliary dyskinesia, primary, 14 |
Reversed | 1 |
HGVS | NC_000003.11:g.180334661_180334663delTACinsA |
CLNSRC | |
CLNACC | RCV000056241.1, |