rs781469274
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs781469274(A;A) |
Make rs781469274(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 13792128 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs781469274 |
dbSNP (classic) | rs781469274 |
ClinGen | rs781469274 |
ebi | rs781469274 |
HLI | rs781469274 |
Exac | rs781469274 |
Gnomad | rs781469274 |
Varsome | rs781469274 |
LitVar | rs781469274 |
Map | rs781469274 |
PheGenI | rs781469274 |
Biobank | rs781469274 |
1000 genomes | rs781469274 |
hgdp | rs781469274 |
ensembl | rs781469274 |
geneview | rs781469274 |
scholar | rs781469274 |
rs781469274 | |
pharmgkb | rs781469274 |
gwascentral | rs781469274 |
openSNP | rs781469274 |
23andMe | rs781469274 |
SNPshot | rs781469274 |
SNPdbe | rs781469274 |
MSV3d | rs781469274 |
GWAS Ctlg | rs781469274 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781469274(A;A) |
Alt | rs781469274(A;A) |
Reference | Rs781469274(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000005.9:g.13792237G>A |
CLNSRC | |
CLNACC | RCV000473928.1, |