rs878855042
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs878855042(-;T) |
Make rs878855042(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 80095282 |
Gene | CCDC40 |
is a | snp |
is | mentioned by |
dbSNP | rs878855042 |
dbSNP (classic) | rs878855042 |
ClinGen | rs878855042 |
ebi | rs878855042 |
HLI | rs878855042 |
Exac | rs878855042 |
Gnomad | rs878855042 |
Varsome | rs878855042 |
LitVar | rs878855042 |
Map | rs878855042 |
PheGenI | rs878855042 |
Biobank | rs878855042 |
1000 genomes | rs878855042 |
hgdp | rs878855042 |
ensembl | rs878855042 |
geneview | rs878855042 |
scholar | rs878855042 |
rs878855042 | |
pharmgkb | rs878855042 |
gwascentral | rs878855042 |
openSNP | rs878855042 |
23andMe | rs878855042 |
SNPshot | rs878855042 |
SNPdbe | rs878855042 |
MSV3d | rs878855042 |
GWAS Ctlg | rs878855042 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855042(T;T) |
Alt | rs878855042(T;T) |
Reference | Rs878855042(-;-) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | CCDC40 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000017.10:g.78069081dupT |
CLNSRC | |
CLNACC | RCV000233917.1, |