rs151107532
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs151107532(G;G) |
Make rs151107532(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 42486463 |
Gene | RSPH1 |
is a | snp |
is | mentioned by |
dbSNP | rs151107532 |
dbSNP (classic) | rs151107532 |
ClinGen | rs151107532 |
ebi | rs151107532 |
HLI | rs151107532 |
Exac | rs151107532 |
Gnomad | rs151107532 |
Varsome | rs151107532 |
LitVar | rs151107532 |
Map | rs151107532 |
PheGenI | rs151107532 |
Biobank | rs151107532 |
1000 genomes | rs151107532 |
hgdp | rs151107532 |
ensembl | rs151107532 |
geneview | rs151107532 |
scholar | rs151107532 |
rs151107532 | |
pharmgkb | rs151107532 |
gwascentral | rs151107532 |
openSNP | rs151107532 |
23andMe | rs151107532 |
SNPshot | rs151107532 |
SNPdbe | rs151107532 |
MSV3d | rs151107532 |
GWAS Ctlg | rs151107532 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151107532(G;G) |
Alt | rs151107532(G;G) |
Reference | Rs151107532(T;T) |
Significance | Pathogenic |
Disease | Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia |
Variation | info |
Gene | RSPH1 |
CLNDBN | Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia |
Reversed | 0 |
HGVS | NC_000021.8:g.43906573T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057512.5, RCV000190924.1, RCV000467674.1, |