rs142800871
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs142800871(C;C) |
Make rs142800871(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 158986423 |
Gene | RSPH3 |
is a | snp |
is | mentioned by |
dbSNP | rs142800871 |
dbSNP (classic) | rs142800871 |
ClinGen | rs142800871 |
ebi | rs142800871 |
HLI | rs142800871 |
Exac | rs142800871 |
Gnomad | rs142800871 |
Varsome | rs142800871 |
LitVar | rs142800871 |
Map | rs142800871 |
PheGenI | rs142800871 |
Biobank | rs142800871 |
1000 genomes | rs142800871 |
hgdp | rs142800871 |
ensembl | rs142800871 |
geneview | rs142800871 |
scholar | rs142800871 |
rs142800871 | |
pharmgkb | rs142800871 |
gwascentral | rs142800871 |
openSNP | rs142800871 |
23andMe | rs142800871 |
SNPshot | rs142800871 |
SNPdbe | rs142800871 |
MSV3d | rs142800871 |
GWAS Ctlg | rs142800871 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142800871(C;C) |
Alt | rs142800871(C;C) |
Reference | Rs142800871(T;T) |
Significance | Pathogenic |
Disease | Ciliary dyskinesia Kartagener syndrome |
Variation | info |
Gene | RSPH3 |
CLNDBN | Ciliary dyskinesia, primary, 32 Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000006.11:g.159407455T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186568.2, RCV000190953.1, |