rs397518455
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397518455(-;-) |
Make rs397518455(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 116617290 |
Gene | RSPH4A |
is a | snp |
is | mentioned by |
dbSNP | rs397518455 |
dbSNP (classic) | rs397518455 |
ClinGen | rs397518455 |
ebi | rs397518455 |
HLI | rs397518455 |
Exac | rs397518455 |
Gnomad | rs397518455 |
Varsome | rs397518455 |
LitVar | rs397518455 |
Map | rs397518455 |
PheGenI | rs397518455 |
Biobank | rs397518455 |
1000 genomes | rs397518455 |
hgdp | rs397518455 |
ensembl | rs397518455 |
geneview | rs397518455 |
scholar | rs397518455 |
rs397518455 | |
pharmgkb | rs397518455 |
gwascentral | rs397518455 |
openSNP | rs397518455 |
23andMe | rs397518455 |
SNPshot | rs397518455 |
SNPdbe | rs397518455 |
MSV3d | rs397518455 |
GWAS Ctlg | rs397518455 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518455(-;-) |
Alt | rs397518455(-;-) |
Reference | Rs397518455(A;A) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | RSPH4A |
CLNDBN | Ciliary dyskinesia, primary, 11 |
Reversed | 0 |
HGVS | NC_000006.11:g.116938453delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057514.4, |