rs397515540
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397515540(-;-) |
Make rs397515540(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 13753290 |
Gene | DNAH5 |
is a | snp |
is | mentioned by |
dbSNP | rs397515540 |
dbSNP (classic) | rs397515540 |
ClinGen | rs397515540 |
ebi | rs397515540 |
HLI | rs397515540 |
Exac | rs397515540 |
Gnomad | rs397515540 |
Varsome | rs397515540 |
LitVar | rs397515540 |
Map | rs397515540 |
PheGenI | rs397515540 |
Biobank | rs397515540 |
1000 genomes | rs397515540 |
hgdp | rs397515540 |
ensembl | rs397515540 |
geneview | rs397515540 |
scholar | rs397515540 |
rs397515540 | |
pharmgkb | rs397515540 |
gwascentral | rs397515540 |
openSNP | rs397515540 |
23andMe | rs397515540 |
SNPshot | rs397515540 |
SNPdbe | rs397515540 |
MSV3d | rs397515540 |
GWAS Ctlg | rs397515540 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515540(-;-) |
Alt | rs397515540(-;-) |
Reference | Rs397515540(T;T) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Primary ciliary dyskinesia |
Variation | info |
Gene | DNAH5 |
CLNDBN | Ciliary dyskinesia, primary, 3 Primary ciliary dyskinesia |
Reversed | 1 |
HGVS | NC_000005.9:g.13753399delA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055849.1, RCV000206560.2, |