rs587777058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777058(G;T) |
Make rs587777058(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 42485807 |
Gene | RSPH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777058 |
dbSNP (classic) | rs587777058 |
ClinGen | rs587777058 |
ebi | rs587777058 |
HLI | rs587777058 |
Exac | rs587777058 |
Gnomad | rs587777058 |
Varsome | rs587777058 |
LitVar | rs587777058 |
Map | rs587777058 |
PheGenI | rs587777058 |
Biobank | rs587777058 |
1000 genomes | rs587777058 |
hgdp | rs587777058 |
ensembl | rs587777058 |
geneview | rs587777058 |
scholar | rs587777058 |
rs587777058 | |
pharmgkb | rs587777058 |
gwascentral | rs587777058 |
openSNP | rs587777058 |
23andMe | rs587777058 |
SNPshot | rs587777058 |
SNPdbe | rs587777058 |
MSV3d | rs587777058 |
GWAS Ctlg | rs587777058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777058(T;T) |
Alt | rs587777058(T;T) |
Reference | Rs587777058(G;G) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia 24 Kartagener syndrome |
Variation | info |
Gene | RSPH1 |
CLNDBN | Primary ciliary dyskinesia 24 Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000021.8:g.43905917G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057510.5, RCV000190926.1, |