rs577069249
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs577069249(C;C) |
Make rs577069249(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 180650140 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs577069249 |
dbSNP (classic) | rs577069249 |
ClinGen | rs577069249 |
ebi | rs577069249 |
HLI | rs577069249 |
Exac | rs577069249 |
Gnomad | rs577069249 |
Varsome | rs577069249 |
LitVar | rs577069249 |
Map | rs577069249 |
PheGenI | rs577069249 |
Biobank | rs577069249 |
1000 genomes | rs577069249 |
hgdp | rs577069249 |
ensembl | rs577069249 |
geneview | rs577069249 |
scholar | rs577069249 |
rs577069249 | |
pharmgkb | rs577069249 |
gwascentral | rs577069249 |
openSNP | rs577069249 |
23andMe | rs577069249 |
SNPshot | rs577069249 |
SNPdbe | rs577069249 |
MSV3d | rs577069249 |
GWAS Ctlg | rs577069249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs577069249(C;C) |
Alt | rs577069249(C;C) |
Reference | Rs577069249(T;T) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000003.11:g.180367928T>C |
CLNSRC | |
CLNACC | RCV000477112.1, |