rs769691189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs769691189(-;-) |
Make rs769691189(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 13752252 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs769691189 |
dbSNP (classic) | rs769691189 |
ClinGen | rs769691189 |
ebi | rs769691189 |
HLI | rs769691189 |
Exac | rs769691189 |
Gnomad | rs769691189 |
Varsome | rs769691189 |
LitVar | rs769691189 |
Map | rs769691189 |
PheGenI | rs769691189 |
Biobank | rs769691189 |
1000 genomes | rs769691189 |
hgdp | rs769691189 |
ensembl | rs769691189 |
geneview | rs769691189 |
scholar | rs769691189 |
rs769691189 | |
pharmgkb | rs769691189 |
gwascentral | rs769691189 |
openSNP | rs769691189 |
23andMe | rs769691189 |
SNPshot | rs769691189 |
SNPdbe | rs769691189 |
MSV3d | rs769691189 |
GWAS Ctlg | rs769691189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769691189(-;-) |
Alt | rs769691189(-;-) |
Reference | Rs769691189(A;A) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13752361delA |
CLNSRC | |
CLNACC | RCV000467540.1, |