rs397515424
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs397515424(-;-) |
Make rs397515424(-;AA) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 132632794 |
Gene | LRRC6 |
is a | snp |
is | mentioned by |
dbSNP | rs397515424 |
dbSNP (classic) | rs397515424 |
ClinGen | rs397515424 |
ebi | rs397515424 |
HLI | rs397515424 |
Exac | rs397515424 |
Gnomad | rs397515424 |
Varsome | rs397515424 |
LitVar | rs397515424 |
Map | rs397515424 |
PheGenI | rs397515424 |
Biobank | rs397515424 |
1000 genomes | rs397515424 |
hgdp | rs397515424 |
ensembl | rs397515424 |
geneview | rs397515424 |
scholar | rs397515424 |
rs397515424 | |
pharmgkb | rs397515424 |
gwascentral | rs397515424 |
openSNP | rs397515424 |
23andMe | rs397515424 |
SNPshot | rs397515424 |
SNPdbe | rs397515424 |
MSV3d | rs397515424 |
GWAS Ctlg | rs397515424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515424(-;-) |
Alt | rs397515424(-;-) |
Reference | Rs397515424(AA;AA) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia |
Variation | info |
Gene | LRRC6 |
CLNDBN | Ciliary dyskinesia, primary, 19 |
Reversed | 1 |
HGVS | NC_000008.10:g.133645040_133645041delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033016.5, |