rs756235547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs756235547(C;C) |
Make rs756235547(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 180659582 |
Gene | CCDC39 |
is a | snp |
is | mentioned by |
dbSNP | rs756235547 |
dbSNP (classic) | rs756235547 |
ClinGen | rs756235547 |
ebi | rs756235547 |
HLI | rs756235547 |
Exac | rs756235547 |
Gnomad | rs756235547 |
Varsome | rs756235547 |
LitVar | rs756235547 |
Map | rs756235547 |
PheGenI | rs756235547 |
Biobank | rs756235547 |
1000 genomes | rs756235547 |
hgdp | rs756235547 |
ensembl | rs756235547 |
geneview | rs756235547 |
scholar | rs756235547 |
rs756235547 | |
pharmgkb | rs756235547 |
gwascentral | rs756235547 |
openSNP | rs756235547 |
23andMe | rs756235547 |
SNPshot | rs756235547 |
SNPdbe | rs756235547 |
MSV3d | rs756235547 |
GWAS Ctlg | rs756235547 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756235547(C;C) |
Alt | rs756235547(C;C) |
Reference | Rs756235547(T;T) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC39 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000003.11:g.180377370T>C |
CLNSRC | |
CLNACC | RCV000200347.4, |