rs769223754
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs769223754(A;A) |
Make rs769223754(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 180641993 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs769223754 |
dbSNP (classic) | rs769223754 |
ClinGen | rs769223754 |
ebi | rs769223754 |
HLI | rs769223754 |
Exac | rs769223754 |
Gnomad | rs769223754 |
Varsome | rs769223754 |
LitVar | rs769223754 |
Map | rs769223754 |
PheGenI | rs769223754 |
Biobank | rs769223754 |
1000 genomes | rs769223754 |
hgdp | rs769223754 |
ensembl | rs769223754 |
geneview | rs769223754 |
scholar | rs769223754 |
rs769223754 | |
pharmgkb | rs769223754 |
gwascentral | rs769223754 |
openSNP | rs769223754 |
23andMe | rs769223754 |
SNPshot | rs769223754 |
SNPdbe | rs769223754 |
MSV3d | rs769223754 |
GWAS Ctlg | rs769223754 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769223754(A;A) |
Alt | rs769223754(A;A) |
Reference | Rs769223754(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | not specified Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000003.11:g.180359781C>A |
CLNSRC | |
CLNACC | RCV000214679.1, RCV000233515.1, |