rs769054713
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769054713(A;A) |
Make rs769054713(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 13777309 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs769054713 |
dbSNP (classic) | rs769054713 |
ClinGen | rs769054713 |
ebi | rs769054713 |
HLI | rs769054713 |
Exac | rs769054713 |
Gnomad | rs769054713 |
Varsome | rs769054713 |
LitVar | rs769054713 |
Map | rs769054713 |
PheGenI | rs769054713 |
Biobank | rs769054713 |
1000 genomes | rs769054713 |
hgdp | rs769054713 |
ensembl | rs769054713 |
geneview | rs769054713 |
scholar | rs769054713 |
rs769054713 | |
pharmgkb | rs769054713 |
gwascentral | rs769054713 |
openSNP | rs769054713 |
23andMe | rs769054713 |
SNPshot | rs769054713 |
SNPdbe | rs769054713 |
MSV3d | rs769054713 |
GWAS Ctlg | rs769054713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769054713(A;A) |
Alt | rs769054713(A;A) |
Reference | Rs769054713(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13777418G>A |
CLNSRC | |
CLNACC | RCV000168445.2, |