rs200382776
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200382776(C;T) |
Make rs200382776(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 42477286 |
Gene | RSPH1 |
is a | snp |
is | mentioned by |
dbSNP | rs200382776 |
dbSNP (classic) | rs200382776 |
ClinGen | rs200382776 |
ebi | rs200382776 |
HLI | rs200382776 |
Exac | rs200382776 |
Gnomad | rs200382776 |
Varsome | rs200382776 |
LitVar | rs200382776 |
Map | rs200382776 |
PheGenI | rs200382776 |
Biobank | rs200382776 |
1000 genomes | rs200382776 |
hgdp | rs200382776 |
ensembl | rs200382776 |
geneview | rs200382776 |
scholar | rs200382776 |
rs200382776 | |
pharmgkb | rs200382776 |
gwascentral | rs200382776 |
openSNP | rs200382776 |
23andMe | rs200382776 |
SNPshot | rs200382776 |
SNPdbe | rs200382776 |
MSV3d | rs200382776 |
GWAS Ctlg | rs200382776 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200382776(T;T) |
Alt | rs200382776(T;T) |
Reference | Rs200382776(C;C) |
Significance | Pathogenic |
Disease | Kartagener syndrome |
Variation | info |
Gene | RSPH1 |
CLNDBN | Kartagener syndrome |
Reversed | 0 |
HGVS | NC_000021.8:g.43897396C>T |
CLNSRC | |
CLNACC | RCV000190928.1, |